Achalasia is a rare disease of the muscle of the esophagus (swallowing tube). The term achalasia means "failure to relax" and refers to the inability of the lower esophageal sphincter (a ring of muscle situated between the lower esophagus and the stomach) to open and let food pass into the stomach. As a result, patients with achalasia have difficulty in swallowing food. How does the normal esophagus function? The esophagus has  Read More

Isovaleric acidemia is a hereditary metabolic disorder caused by changes in genetic mutation.The encoding of the gene enzyme "isovaleryl-CoA dehydrogenase" in the body results in this disease.Moreover, it results in the indigestion of protein components such as leucine and amino acid found in the food item.The buildup of undigested food can leads to serious illnesses generally known as m  Read More

Alkaptonuria, a rare genetic metabolic disorder, caused by the homogentisic acid accumulating in the body. An individual affected by Alkaptonuria lacks the ability to break down the homogentisic acid by the enzymes. In addition, individuals can have black or dark urine.Yes, there is a process by which Alkaptonuria can be diagnosed and treated with medications.The individual will need to go through a detail  Read More

Anorexia nervousa is an eating disorder for people with trifling body weight. They have an intense fear of gaining weight, so they started taking on a crash diet, limiting calorie intake, or not eating. Moreover, if they consume high calories, they take it out through vomiting after eating or by misusing laxatives, diet aids, diuretics, or enemas. However, it is curable through the following methods:Hospitalization  Read More

Apple peel syndrome is also known as apple peel intestinal atresia.It is a unique form of small bowel atresia, in which the small intestine opens up in a blind pouch, and the distal small bowel wraps around its blood supply in a spiral resembling an apple peel.It is a birth defect caused by a mutation change. Apple peel syndrome is commonly found in newborns.Moreover, it reflects the following sym  Read More

Arginase deficiency is an inherited metabolic disorder that makes the body unable to digest building blocks of protein. It causes amino acids arginine and amino acid to accumulate in the blood flow.Arginase is one of six enzymes that have a significant role in removing and breaking down nitrogen from the body.Moreover, it belongs to the urea cycle.However, it is a situation in which the body&rsquo  Read More

Argininemia results from genetic mutation of gene ARG1 that leads to cause a harmful amount of arginine( body build protein) and ammonia to build up in the body. This disease leads to an imbalanced proliferation of ammonia in the body, which results in serious health issues like coma, kidney and liver failure, UTI, and even death.This disease is more often visible in newborns, and they can reflect symptoms like:  Read More

Argininosuccinate lyase (ASL) catalyzes the lysis of arginine succinate into fumarate and arginine. This reaction replenishes arginine that initiates the urea cycle. ASL deficiency thus reduces the concentration of arginine and slows down the fixation of nitrogen into urea.Symptoms of Argininosuccinate lyase DeficiencyNeonatal onset form is characterized by hyperammonemia within a few days after the bir  Read More

Argininosuccinic aciduria (ASA) is a rare inherited disorder that causes elevated blood ammonia levels.If ammonia buildup in the blood is not detected and treated promptly, it can cause brain damage and even death.It is caused by changes (mutations) in the ASL gene that result in a deficiency.ASL (argininosuccinate lyase) is an enzyme that breaks down and eliminates nitrogen from the body.  Read More

What is arsenic? Arsenic is a grey-appearing chemical element (atomic number 33, symbol As in the periodic table) also termed a metalloid. Arsenic can exist in a metallic state in three forms (yellow, black, and gray; with gray predominating) and in ionic forms. Arsenic is considered to be a heavy metal, and arsenic toxicity shares some features with poisonings by other heavy metals. Historically, arsenic has been used as a medicinal a  Read More

Ascites is the pathological accumulation of fluid in the peritoneal space, especially the abdomen. In a healthy human body, the peritoneal space contains a minute quantity of fluid. Ascites occur due to several disorders, including cirrhosis, chronic alcohol use, IV drug use, obesity, hypercholesterolemia, type 2 diabetes, nephrotic syndrome, severe malnutrition, pancreatic ascites, and ovarian lesions.Treatment de  Read More

Balantidiasis is a rare infection that affects the intestines. This condition is caused by a bacterium called, Balantidium coli.This bacterium is a single-celled parasite that usually attacks pigs but rarely infects humans as well.Some people with this infection may not have any symptoms or a few symptoms like diarrhea or mild abdominal discomfort.But some others may experience severe symptoms suc  Read More

A bilious attack, also known as a gallbladder attack, is one of the most severe gastrointestinal problems.These attacks occur when bile and minerals in the body form small stone-like structures or gallstones.Consequently, these stones pass through the bile ducts by the gallbladder, which causes mild to severe pain in the process.The person suffering from this attack may feel a sharp pain in the up  Read More

Bladder infection is an infection of the bladder. Bladder infection is also called cystitis and is a type of urinary tract infection (UTI). The urinary tract is naturally sterile and when microbes invade it, an infection may result. The bladder is a part of the urinary tract system. It serves as storage for urine before it is excreted from the body. Urine is produced by the kidney and it travels through ureters (one from the right kidn  Read More

A uncommon inherited metabolic condition called blue diaper syndrome is characterised by an inefficient intestinal digestion of the vitamin tryptophan.Blue diaper syndrome is a rare inborn metabolic defect that is typically identified when an infant's diapers show odd blue stains from pee (indoluria).This happens when excessive amounts of unabsorbed tryptophan are broken down by gut microorganisms.  Read More

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The lack of zinc presents, characteristically, as: (1) skin inflammation with pimples (pustular dermatitis) occurring around the mouth and/or an  Read More

A person with Buerger-Greutz syndrome has a faulty lipoprotein lipase gene, which results in extremely high triglycerides. This in turn induces stomach pain and fat deposits beneath the skin, which can create issues with the pancreas and liver, and result in diabetes. Only when a child inherits the flawed gene from both parents does the condition manifest (it is autosomal recessive). Limiting daily fat intake to under 20 g can  Read More

Bulimia nervosa is an eating disorder in which the affected person experiences episodes of binge eating and purging food and calories.This disorder is a public health problem due to its serious side effects on physical and mental health.This condition mostly affects people who are suffering from body dysmorphia, depression, anxiety and substance abuse disorders.There is no specific cause for bulim  Read More

Campylobacteriosis is an infection caused by bacteria you can get from contaminated food and water. It causes diarrhea. You might also hear it called campylobacter, campylobacter infection, or campylobacteriosis gastroenteritis.  Read More

Multiple carboxylase deficiency (MCD) is a crucial metabolic disorder that occurs when there is a lack of coenzyme activity of biotin.The usual genetic causes of multiple carboxylase deficiency involve biotinidase deficiency and holocarboxylase synthetase (HCS) deficiency.A deficiency is evident in the biotin-dependent enzymes (methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and propionyl-CoA carboxy  Read More

Celiac disease, sometimes called celiac sprue or gluten-sensitive enteropathy, is an immune reaction to eating gluten, a protein found in wheat, barley and rye.  Read More

Ulcerative colitis is often treated with either medication therapy or surgery. Certain medication classifications may be effective in curing ulcerative colitis. The type you choose will be determined by the severity of your disease.Drugs that work well for one person may not work well for another, so it may take some time to discover a medication that works for you. Furthermore, because some medications have major side e  Read More

Ulcers, diarrhea, cramping, persistent inflammation, and severe abdominal discomfort are all symptoms of colitis gravis, a chronic inflammatory illness of the intestine.Infection, inflammatory bowel disease (IBD), inadequate blood supply to the colon, and invasion of the colon wall by lymphocytic white blood cells are some of the potential reasons for an inflamed colon.An area of the colon, or the entire c  Read More

Collagenous colitis is one type of microscopic colitis. These particular white blood cells can enter the inner wall of the colon as a result of inflammation. This particular type of colitis is uncommon and may be caused by an autoimmune disorder.Cure or medication for Collagenous colitisCollagenous colitis might heal on its own. However, you might require treatment to get better if your symptoms are sev  Read More

Carbamoyl phosphate synthetase 1 CPS deficiency is a genetic disease that is passed down hereditarily, and hence there is always a risk that if your ancestors had it, you or your children could have it.When a gene is autosomal, it can be found on any chromosome other than the X or Y chromosomes (sex chromosomes).Like chromosomes, genes frequently exist in pairs.Recessive means that for a person to  Read More

Crohn's disease facts Crohn's disease is a chronic inflammatory disease of the intestines. The cause of Crohn's disease is unknown. Crohn's disease can cause ulcers in the small intestine, colon, or both. Abdominal pain, diarrhea, vomiting, fever, and weight loss are symptoms of Crohn's disease. Crohn's disease of the small intestine may cause obstruction of the intestine. Crohn'  Read More

The exceedingly rare disease Cronkhite-Canada syndrome (CCS) is characterized by a variety of intestinal polyps, taste loss, hair loss, and issues with nail growth. Because the polyps are accompanied by malabsorption, it is challenging to treat. CCS is more common in older people (average age 59) and mostly affects males. It is seen as an acquired disease rather than a hereditary one.The cause for this is still not  Read More

An uncommon genetic condition known as cryptophthalmos syndactyl syndrome is characterized by a number of birth defects.A narrow, blocked, and malformed voice box and lower respiratory tract (nostrils, larynx, and lungs); limb anomalies; kidney (renal) abnormalities; external genital malformations; eyes that are completely covered by skin and usually malformed (cryptophthalmos) causing blindness; a fusion of the sk  Read More

Cryptosporidiosis is a diarrheal disease caused by microscopic parasites, Cryptosporidium, that can live in the intestine of humans and animals and is passed in the stool of an infected person or animal. Both the disease and the parasite are commonly known as "Crypto." The parasite is protected by an outer shell that allows it to survive outside the body for long periods of time and makes it very resistant to chlorine-based disinfectants. Duri  Read More

Rather than a disease, common variable immunodeficiency disorder (CVID) is a collection of hypo-gammaglobulinemia syndromes caused by various genetic defects.Primarily, it is a humoral immunodeficiency disorder, characterized by reduced serum levels of immunoglobulin G and immunoglobulin A (IgA) or immunoglobulin M (IgM), recurrent sinopulmonary infections, autoimmune disorders, granulomatous diseases, elevated ris  Read More

Cyclic vomiting syndrome presents with recurrent episodes of nausea and vomiting that lasts from hours to days. Pathophysiology is not known yet.In children with cyclic vomiting syndrome, the symptoms appear by age 3 to 7. However, the adults presenting the disease may not have episodes of vomiting in their childhood. There is no cure. However, the symptoms are treatable.TreatmentThe treatme  Read More

Cyclic vomiting syndrome is characterized by episodes of severe vomiting that have no apparent cause. Episodes can last for hours or days and alternate with symptom-free periods. Episodes are similar, meaning that they tend to start at the same time of day, last the same length o  Read More

Severely explosive water-like motions due to a one-cell microscopic parasite are Cyclospora Infection. Cyclospora is a name of a parasite responsible for this disease. The motions are hard to control and result in enormous water loss in a patient’s body.Diagnosis:It can only be diagnosed through laboratory testing of the patient’s stool and looking for the presence of this one-cell parasite  Read More

Cysticercosis (pork tapeworm infection) facts Cysticercosis is a parasitic disease caused by ingesting the eggs of the pork tapeworm, Taenia solium. Humans are infected by ingesting raw or undercooked pork, and cysticercosis occurs after the ingestion of Taenia solium eggs. The symptoms of neurocysticercosis may include headaches, confusion, seizures, and vision changes. Cysticercosis is typically d  Read More

The task of cytochrome C is technical in terms of chemistry and chain formation. But in simple words, it is an enzyme that processes oxygen and energy levels of major organs like the heart, liver, skeletal muscles, and brain.Chains in the DNA of a body carry this enzyme with different protons and electrons for the smooth functioning of Cytochrome C. But the defect or deficiency of this enzyme creates errors and muscle development i  Read More

Davidson’s disease or Microvillus inclusion disease is an extremely rare and life-threatening intestinal disorder, that usually shows up within a few hours or days after birth.Generally, each cell in the small intestine is surrounded by tiny finger-like structures, villi, and microvilli. It will increase the surface area of the cell, thereby increasing the rate of absorption.These cells in the affect  Read More

Dehydration can occur due to many reasons. The prime reason is sweating. It can also be triggered by diarrhea or vomiting, which can quickly eliminate fluids from your body. All of these can trigger water and electrolyte loss in the body.The most important way to treat dehydration is to replace the electrolytes and fluids the body has lost. Restoring the electrolyte balance will prevent an individual from dehydrati  Read More

Frequent and reoccurring loose water stoom with stomach pain is regarded as diarrhea. It is inflammatory bowel syndrome caused by viruses or contaminated food. It can affect a person of any age group and sometimes leads to dehydration. However, it is easily curable and treated through medications.The cure and medication for diarrhea are as follows:Anti-biotics and anti-parasital: Usually, the cause of d  Read More

Diverticulosis and diverticulitis facts Most patients with diverticulosis (diverticular disease) have few or no symptoms. Abdominal pain, constipation, and diarrhea, can occur with diverticulosis, which then may be called diverticular disease. Diverticulosis can be diagnosed with barium X-rays, sigmoidoscopy, colonoscopy, or CT scan. Treatment of diverticulosis can include high fiber diet, and anti-  Read More

Dubin-Jhonson syndrome is a rare genetic liver disorder that is inherited by the autosomal recessive pattern ( inherit one mutated gene from each parent ). It is characterized by the breakdown of red blood cells into the yellowish pigment in the blood that results in bilirubin buildup. Moreover, this buildup is released into the bile, a digestive juice secreted by the liver. Moreover, this pigment gives stool a deep yellowish  Read More

Duodenal atresia or stenosis is a rare inherited autosomal recessive genetic trait( inherit one mutated gene from each parent) in newborns. It is a condition that results in improper development of the first part of the small intestine. The partial development results in the blockages of the path, and food can't process down. However, it is associated with the following risk factors.Down syndrome: It is the mos  Read More

Duodenal ulcer is a type of peptic ulcer that result in a sore on the inside lining and upper portion of the duodenum (first part of the small intestine. This user may result in stomach pain, bloating, intolerance to fatty food, and nauseous. However, it is curable through medication and care. Still, before medication, the doctor may diagnose you with endoscopy, X-rays, and lab tests to check the cause and seriousness of the m  Read More

Eating disorder is not limited to only one factor of eating. There are various eating disorders, including eating excessively and not eating at all. For instance, anorexia is a disorder that leads an individual to strive for the perspective of not gaining weight even if he or she is underweight.However, Binge eating disorder (BED) is related to loss of control over eating and feeling guilty and distressed afterward  Read More

Enterovirulent E. coli (EEC) are bacterial strains that have a strong tendency to cause gastrointestinal tract infections. However, it is curable through antibiotics.Since it is a bacterial disease, it can be curable through oral and intravenous antibiotics. Following is the list of medications for Entervirulent E. coil (EEC):Azithromycin: It is an antibacterial medication used to cure many bacterial in  Read More

Achalasia symptoms generally appear gradually and worsen over time. Signs and symptoms may include: Inability to swallow (dysphagia), which may feel like food or drink is stuck in your throat Regurgitating food or saliva Heartburn Belching Chest pain that comes and goes Coughing at night Pneumonia (from aspiration of food into the lungs) Weight loss  Read More

Excess upper intestinal gas (excessive gas) may result from swallowing more than a usual amount of air, overeating, smoking, or chewing gum. Excess lower intestinal gas, on the other hand, can be caused by eating too much of certain foods, inability to digest certain foods fully, or disruption in the bacteria normally found in the colon.Risk factors of getting excessive gas include:Eating foods that cau  Read More

Familial alpha-lipoprotein deficiency, also known as familial hypo alpha-lipoproteinemia, is a heterogeneous group of genetic disorders.Lipids are one of the essential biomolecules that play active roles in various physiological activities and are made of cholesterol and protein. The protein is called a lipoprotein.In patients with alpha-lipoprotein deficiency, the serum levels of high-density lipoprotein  Read More

To check for infant jaundice, press gently on your baby's forehead or nose. If the skin looks yellow where you pressed, it's likely your baby has mild jaundice. If your baby doesn't have jaundice, the skin color should simply look slightly lighter than its normal color for a moment. Examine your baby in good lighting conditions, preferably in natural daylight.  Read More

Symptoms may include: Fatigue Weakness Headache Pallor Sore mouth and tongue  Read More

Fucosidosis/fucosidase deficiency is brought about by transformations in genes known as FUCA1, which gives directions to the development of a protein called alpha-L-fucosidase.Alpha-L-fucosidase for the most part, works in a cell's lysosomes and is liable for the breakdown and reusing of explicit complex sugars connected to protein and fat particles.The genes which came hereditary in FUCA1 quality impe  Read More

Galactosemia is a disorder that affects the bodily processing of simple sugar called galactose. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.There are several types of galactosemia, and these conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.The primary risk factor for galactose  Read More

GALT deficiency/Galactosemia is a rare genetic disorder that affects how your body processes or metabolizes a sugar called galactose.Signs and symptoms include:An infant affected with galactosemia, appears normal at birth; however, within a few days or weeks, the infant may lose its appetite and start vomiting excessively.Yellowing of the skin, and mucous membranes, and whites of the eyes (jaun  Read More

Gastric banding is a laparoscopic surgery which is recommended in weight loss. It is recommended hyper obese patients. The surgeon places a band around the upper part of your stomach to create a small pouch to hold food. The band limits the amount of food you can eat by making you feel full after eating small amounts of food. , guidelines recommended gastric band placement only if a person’s body mass index35 or above. Some people with a BMI o  Read More

The most common peptic ulcer symptom is burning stomach pain. Stomach acid makes the pain worse, as does having an empty stomach. The pain can often be relieved by eating certain foods that buffer stomach acid or by taking an acid-reducing medication, but then it may come back. The pain may be worse between meals and at night. Many people with peptic ulcers don't even have symptoms. Less often, ulcers may cause severe signs or  Read More

Gastritis is inflammation of the lining of the stomach. Unfortunately, the term "gastritis" has been misused to include many different upper abdominal problems, but true gastritis refers to the stomach lining (gastric mucosa) that is inflamed. All or part of the gastric mucosa may be involved. Gastritis may be classified as acute or chronic. Acute gastritis may be characterized as erosive (damaged areas where mucosal cells are disrupted or mis  Read More

Definition of gastroenteritis Gastroenteritis (often referred to as the "stomach flu," however, it is not related to the influenza virus. Gastroenteritis is a nonspecific term for various inflammatory problems in the gastrointestinal tract with the most common symptoms and signs being diarrhea, nausea, vomiting, and abdominal pains. As previously mentioned, although it is not caused by influenza viruses, gastroenteritis  i  Read More

Eosinophilic gastroenteritis (EGE) is a rare form of an inflammatory disorder. It occurs due to the infiltration in the walls of the intestine that affect the small intestine and the stomach. Under EGE, any part between the esophagus and the rectum of the gastrointestinal tract may get affected. This EGE can further be classified into muscular, mucosal, and serosal.According to several types of research performed, not ma  Read More

An esophageal laceration is also referred to as the Mallory-Weiss syndrome/gastroesophageal laceration-hemorrhage. It highlights a laceration or tear of the mucous membrane. This commonly occurs at the point where the stomach and esophagus meet, also known as the gastroesophageal junction. This tear is likely to trigger extensive bleeding from the gastrointestinal tract.TreatmentIn most cases, it is evi  Read More

The digestive system of the body includes the gastrointestinal (GI) tract. In order for the body to utilize the nutrients (vitamins, minerals, carbs, fats, proteins, and water) from food, it aids in digestion. A condition known as gastrointestinal stromal tumor causes abnormal cells to grow in the tissues of the gastrointestinal or digestive tract.Cure/medications:Patients with gastrointestinal stromal  Read More

Infection that leads to unstable functioning of stomach muscles in emptying it and moving the food to the small intestines is called Gastroparesis.Gastroparesis has very peculiar and common traits of sending the message that the gut is not well and needs immediate attention. It creates problems with nutrition and blood sugar levels.Diagnosis:Doctors use the following methods to understand if  Read More

Glioma-polyposis deficiency syndrome is a rare genetic condition that is characterized by the cohabitation of malignancies of the central nervous system and benign growths (adenomatous polyps) in the mucosal lining of the gastrointestinal tract.Depending on where it is and how quickly it is growing, a glioma can limit your brain's function and pose a threat to your life. The cause of glioma is still, like that  Read More

A deficiency of the glucocerebrosidase enzyme causes the inherited (genetic) disorder known as Gaucher disease. Due to a lack of the enzyme glucocerebrosidase, Gaucher disease, also known as glucocerebrosidase deficiency, is a genetic disorder that causes aberrant accumulations of the fatty compounds known as glycolipids in various human tissues.There are numerous terms that can be used to describe Gaucher disease.  Read More

A deficiency in the transport of glucose and galactose across the intestinal lining results in the rare metabolic condition known as glucose galactose malabsorption (GGM). If lactose (milk sugar), sucrose (table sugar), glucose, and galactose are not eliminated from the diet, GGM is characterised by severe diarrhea and dehydration. If these sugars are not eliminated, GGM can quickly lead to death. However, up to 10% of people could have a litt  Read More

Glutaric acidemia I is a rare and severe inherited condition that makes the body unable to digest certain types of protein ( amino acids). This results in organic acid disorder that results in an abnormal buildup of organic acid in blood and urine. Moreover, the tissues of the body can also be intoxicated and serve health problems like brain damage, kidney, and liver failure.People with Glutaric acidemia I lack par  Read More

Glutaric acidemia II is an inherited disorder that disturbs the body’s ability to break down fats and protein to produce energy. Moreover, these incomplete breakdowns of protein and fats make the tissues and blood too acidic. It appears in the early stages of childhood and results in weakness and low blood sugar levels. In severe cases, individuals affected with glutaric acidemia type II may also be born with physical abnormalities, including b  Read More

Non-ketotic hyperglycinemia (NKH)/glycinemia nonketotic is a rare, genetic metabolic disorder. The disorder is caused by a defect in the enzyme system which helps break down the amino acid glycine. This results in the accumulation of large quantities of glycine in all body tissues, including the brain. There is a classical form of NKH and a variant form of NKH. The classical form is then further divided into severe disorder or  Read More

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body.Glycogen storage disease I (GSDI) is inherited as an autosomal recessive genetic disorder.The disorder is characterized by the accumulation of excess glycogen and fat in the liver and kidneys, resulting in an enlarged liver  Read More

Glycogen storage disease type 3 is also known as Forbes-Cori disease. The disease is caused by mutations to the AGL gene that instruct the synthesis of glycogen debranching enzyme. Debranching is one of the initial steps of glycogenolysis that is intended to release glucose from stored glycogen during fasting. Due to the enzyme deficiency, glycogen continues to deposit in the liver, cardiac and skeletal muscles. The affected i  Read More

The deficiency of glycogen breakdown enzyme leads to Glycogen Storage Disease VI. When the glycogen levels are not broken and used in an infant’s body, they accumulate in the liver. This accumulation results in enlarged liver and its improper functioning.Glycogen is the complex sugar in our body stored for energy requirements. The excess and unused glycogen create GSD VI. It detects during infancy or the earl  Read More

Glycogen storage disease vii is a hereditary disorder. Most cases are found in children. It is caused due to transfer of genes from the parents. The cause of GSD is the lack of an enzyme responsible for the breakdown of glycogen.Breakdown of glycogen into glucose is necessary for providing energy to the body. The Phosphofructokinase enzyme is responsible for the breaking down of glycogen into glucose. The lack of glucose  Read More

Glycogenosis type vii is a disease caused due to lack of capacity to produce glucose. Due to this, the body craves for energy. There are various symptoms caused due to glycogenosis which are tiredness, nausea and vomiting. The skin gets yellowish as in jaundice and the color of urine becomes reddish-brown, also known as myoglobinuria.The symptoms of glycogenosis also include anemia. Due to anemia, there is a decrea  Read More

Glycosylasparaginase deficiency/Aspartylglucosaminuria (AGU) is an inherited disease that causes mental functioning, accompanied by an increase in skin, bone, and joint issues.The condition doesn't show any symptom at birth. However, the signs and symptoms may become apparent between two and four years of age and become progressively worse as the individual ages.Certain risk factors for developing t  Read More

Congenital erythropoietic porphyria (CEP)/guenther porphyria is a metabolic disorder that affects the production of haem, the iron-containing substance that binds oxygen to red blood cells. Because it was first described by Hans Gunther, it is also known as gunther porphyria.How is congenital erythropoietic porphyria treated?CEP lasts a lifetime.To reduce symptoms and damage, it is essential to  Read More

HAL deficiency i.e histidine ammonia-lyase (HAL) deficiency or histidase deficiency, hyperhistidinemia or Histidinemia is a rare, autosomal recessive hereditary metabolic disorder.It is caused by a deficiency of the enzyme histidase, which is necessary for metabolizing the amino acid histidine. As a result, elevated levels of histidine are present in the blood.Along with histidine, there are excessive amou  Read More

Hartnup disease is also referred to as Hartnup disorder, an uncommon genetic condition involving an inborn mistake in amino acid metabolism. It makes it challenging for your kidneys to reabsorb specific amino acids from your intestine. Amino acids are necessary for proper growth and development since they are the chemical building blocks of proteins. Many amino acids are lost through the urine tract when someone has hartnup di  Read More

The signs and symptoms of Hartnup Disorder differ significantly from person to person.The majority of those affected lack any noticeable symptoms (asymptomatic).When symptoms appear, they often do so between the ages of 3 and 9. Rarely, do symptoms not start to show themselves till adulthood.On the face, arms, extremities, and other exposed parts of the skin, red, scaly, light-sensitive (photosens  Read More

The esophagus connects the mouth and throat to the stomach. It passes through the chest cavity and enters the abdominal cavity through a hole in the diaphragm called the esophageal hiatus. The term hiatal hernia describes a condition where a part of the stomach that normally is located in the abdominal cavity pushes or protrudes through the esophageal hiatus to rest within the chest cavity.  Read More

Hill diarrhea affects tourists and other people who drink or eat contaminated food.It is a short but uncomfortable gastrointestinal infection that frequently results in loose stools and cramping in the abdomen.The majority of the time, bacteria are to blame, however, parasites or viruses can also be to blame.When visiting nations with less stringent sanitary regulations than their own, internation  Read More

Histidinemia is a genetic disease caused by an autosomal recessive metabolic disorder. It is characterized by deficient production of the enzyme that breaks down histidine. It is usually a benign condition and asymptomatic in most cases.Usually, a genetic disorder will not tend to have any causative factor other than its inheritance.There are some risk factors associated with this case. Consanguineal marri  Read More

Homocysteine is an amino acid that is produced by the body by chemically altering adenosine. Amino acids are naturally made products, which are the building blocks of all the proteins in the body.    Read More

Hutchinson weber putz syndrome is caused by the autosomal dominant disorder which results in the numerous noncancerous benign polyps in the digestive system. These non-cancerous growths are called hamartomatous polyps. There is an increased risk of cancer associated with this disease.This condition is commonly seen in children.They tend to develop small dark-coloured spots on the mouth orifice and lips.  Read More

Hyper beta-carnosinemia is a rare inborn error in the metabolism of a dipeptide called carnosine that results in the accumulation of carnosine in muscle and brain tissues.Carnosine is formed of the amino acids alanine and histidine.The disease is confirmed with an amino-acid analysis of the blood.The affected individuals develop the symptoms of the disease within a year from birth.The def  Read More

IBS (irritable bowel syndrome) triggers and prevention is a condition that is chronic, and the large intestines are affected by it. Symptoms may vary from person to person and are as follows.Cramping - In IBS, severe abdominal pain occurs, and such cramping happens in the lower abdomen. Cramping in the abdomen helps to know if one is suffering from IBS.Bowel movement - In IBS, the timing of the stool remai  Read More

Ichthyotic Neutral Lipid Storage Disease (NLSDI) is a rare autosomal genetic disorder caused by excessive accumulation of lipid in body tissues. The human body stores surplus energy, in the form of triacylglycerols, primarily in adipose tissues; However, every tissue stores lipid droplets.The enzyme adipose triglyceride lipase (ATGL) releases triglycerides from the lipid droplets, for energy. However, ATGL is stimulated  Read More

Immunodeficiency-3 (common variable 3)is a disorder that impairs the immune system.People with ID-3 are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses, and often develop recurrent infections, particularly in the lungs, sinuses, and ears.Pneumonia is common in people with immunodeficiency -3, chronic bronchitis is also sometimes seen alongside.People  Read More

Dyspepsia (indigestion) facts Dyspepsia is a functional disease in which the gastrointestinal organs, primarily the stomach and first part of the small intestine, function abnormally. It is a chronic disease in which the symptoms fluctuate in frequency and intensity. Theories of the cause of dyspepsia include abnormal input from intestinal sensory nerves, abnormal processing of input from the sensory nerves, and abnorm  Read More

Jaundice is the condition caused by the yellowing of the sclera, mucosa and other organs. It is caused due to the improper working of the liver. Infectious jaundice is caused due to the infections caused in the liver by viruses or bacteria.Hepatitis type A to E viruses are the common causes for this condition. This disease is usually more severe in adults compared to children. Jaundice is also caused due to bacteri  Read More

Interstitial cystitis facts PBS/IC is an inflammatory disease of the bladder that can cause ulceration and bleeding of the bladder's lining and can lead to scarring and stiffening of the bladder. The symptoms of PBS/IC are pelvic pain, frequent urination, urinary urgency. PBS/IC has a variable clinical course, meaning that symptoms can appear and disappear over time.  Read More

We all have gas in our intestinal tracts, yet it's a subject that people frequently avoid talking about.Symptoms of intestinal gas (belching, bloating, flatulence) include:Belching, stomach pains, flatulence, and a bloated or full feeling are all symptoms that gas can cause (gas).The majority of the time, these symptoms are transient and disappear as soon as the gas is vomited out or belche  Read More

Intussusception facts Intussusception is the infolding (telescoping) of one segment of the intestine within another. Intussusception usually results in a blockage of the intestine. Intussusception occurs primarily in infants (boys more often than girls) but can also occur in adults and older children. The primary symptoms of intussusception include abdominal pain and vomiting. Early diagno  Read More

What is the definition of irritable bowel syndrome (IBS)? Irritable bowel syndrome (IBS) is a gastrointestinal disorder characterized by the presence of a cluster of symptoms and signs in adult or children that include cramping, abdominal pain, increased gas, altered bowel habits, food intolerance, and bloating (distention). Irritable bowel syndrome is a "functional" disorder. This term refers to the changes in the functioning  Read More

What is irritable bowel syndrome (IBS)? Irritable bowel syndrome is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symptoms, but the GI tract does not become damaged. IBS is not a disease; it is a group of symptoms that occur together. The most common symptoms of IBS are abdominal pain or discomfort, often reported as  Read More

Jegher's syndrome is caused by the autosomal dominant disorder which results in the numerous noncancerous benign polyps in the digestive system. These noncancerous growths are called hamartomatous polyps. There is an increased risk of cancer associated with this disease.Risk factorsThis condition is commonly seen in children.They tend to develop small dark-colored spots on the mouth orifice  Read More

Lactose intolerance is the inability to digest and absorb lactose (the sugar in milk) that results in gastrointestinal symptoms when milk or food products containing milk are consumed.          Read More

Lactose intolerance (lactase deficiency) is the lack of digestive enzymes required for digesting the lactose sugar found in milk and dairy products. The problem occurs as a genetic predisposition, though the condition is harmless. This can cause severe bloating, indigestion, vomiting, diarrhea, etc., on the consumption of dairy products.The best method to treat this condition is avoidance of dairy products and shif  Read More

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that restricts the body from converting specific fats to energy, especially during periods of fasting.The symptoms of LCAD deficiency appear during infancy or early childhood.It involves hypoglycemia (low blood sugar), lethargy (lack of energy) and muscle weakness.The individuals who are affected by this disorder are also hig  Read More

Lipid deficiency does not show any direct symptoms. The effects of the disease are only realized years after it has been present in the body. The arteries become blocked as a result of high LDL levels. The bloodstream's greater lipid concentration leads to artery wall deposition. Atherosclerosis is the term for this. The arteries may get blocked as a result of this atherosclerosis. This may result in a heart attack due to  Read More

Lipid storage disease is a condition in which an enzyme in catabolism or transport of lipid is expressed in a lower quantity, or the expressed enzyme is non-functional. It leads to the accumulation of lipids in abnormally high quantities.SymptomsLipid storage diseases are genetic disorders, and hence, the defects are present from birth. The age at which affected individuals develop symptoms and progress  Read More

Listeriosis is an infection caused by a gram-positive motile bacterium named Listeria monocytogenes. The infection produces fever, muscle aches, and, in many people, diarrhea. Severe infections can cause headaches, meningitis, convulsions, and death. Most healthy people exposed to the bacteria have minor or no symptoms, but a few people, especially the elderly, pregnant females and their fetus, newborns, and anyone with a compromised immune sy  Read More

The full form of LPL deficiency is Lipoprotein Lipase Deficiency. People with this disease face problems in their pancreas and liver. Once you suffer from LPL, the fat stored under the skin causes stomach pain. It may also lead to diabetes when your pancreas and liver get affected. It is a genetic disorder, and the child carrying defective genes from their parents is at a high risk of getting this disease. LPL deficiency is a  Read More

Macular degeneration, also known as Age-related macular degeneration is a common eye disorder caused by the deterioration of the macula, a region in the center of the retina, present in the back of the eye.Macular Degeneration is not a curable condition. Early diagnosis and proper treatment will slow the progression of the condition and aid in the management of the symptoms. Based on the severity of the disease and healt  Read More

Malignant large bowel cystadenocarcinoma, sometimes referred to as colon cancer, develops in the large intestine (colon). The digestive system ends with the colon.Colon cancer can strike anyone at any age, but it often strikes older persons.Small, benign (noncancerous) cell clusters called polyps commonly grow on the interior of the colon as the first signs of the condition.Some of these polyps ma  Read More

Cuts and splits on the lining and inner layers of the esophagus due to many forceful reasons like vomiting or straining, Mallory Weiss Tears. The burning and irritation due to these tears are called Mallory Weiss Syndrome.It is generally felt at an early stage when the cuts are not so deep. But the continuous flow of solid food and the use of vocal cords can raise the issue further.Risk factors:It  Read More

A tear or split in the mucous membrane or inner lining, where the esophagus (lower esophageal tissue) joins the stomach, characterizes Mallory-Weiss Laceration. This condition can occur as a result of severe vomiting.Symptoms of Mallory Weiss LacerationMWS is not usually accompanied by symptoms. This occurs more frequently in milder cases where esophageal tears result in minimal bleeding and heal quickl  Read More

Methylmalonic acidemia (MMA) is a genetic disorder that makes the body unable to digest certain proteins and fats. The undigested substance releases methylmalonic acid into the bloodstream. These toxin chemicals in the blood can result in some consequential illnesses in the patients. However, this genetic metabolism disorder transfers from parent to infant.Here are some risk factors associated with this inborn error of m  Read More

Collagenous colitis typically responds well to therapy. Sometimes the symptoms may even go away on their own without treatment. Doctors will initially advise a patient to cease using any medications that have been linked to collagenous colitis.There are numerous drugs that can be used to lessen or eliminate symptoms. The majority of research indicates that the first line of treatment for collagenous colitis should  Read More

Microvillus inclusion disease is a genetic characteristic that is carried as an autosomal recessive trait. This implies that the disorder is transmitted by a gene on a chromosome that does not have a role in defining a person's gender.Both males and females can be infected, though it appears to affect females more frequently.Because this gene is recessive, both parents have it to pass the condition on  Read More

Lactose intolerance refers to the failure to digest lactose, a sugar found largely in milk and milk products. It is caused by a lack of lactase in the body, an enzyme generated by the small intestine that is required for lactose digestion. Although lactose intolerance is not hazardous, the symptoms might be uncomfortable.There are numerous symptoms of lactose intolerance. The severity of yours is determined by how  Read More

Treating the underlying illness may restore the body's capacity to digest lactose in persons with lactose intolerance, albeit this process might take months. A low-lactose diet may help you prevent the unpleasantness of milk intolerance for other reasons.To reduce the quantity of lactose in your diet, do the following:Limit your intake of dairy foods.Include tiny amounts of milk products in  Read More

Pathogenic mutations in the SUMF1 gene produce the autosomal recessive condition known as multiple sulfatase deficiency. The brain, skin, and skeleton are primarily affected by multiple sulfatase deficiency. Multiple sulfatase insufficiency has three types: neonatal, late-infantile, and juvenile due to the considerable variation in its indications and symptoms.Risk factors for Multiple Sulfatase Deficiency  Read More

A bacterial infection called Neapolitan fever can pass from animals to people. People typically contract the disease by consuming raw or unpasteurized dairy products. Fever, tiredness, and joint discomfort are a few Neapolitan fever symptoms and signs that may be present. The Neapolitan fever-causing germs can occasionally be transmitted through the air or by coming into close contact with affected animals.Symptoms  Read More

Red blood cell premature damage is the primary characteristic of a condition known as Nonspherocytic congenital hemolytic anemia.The body's red blood cells carry oxygen around. Thus, congenital hemolytic anemia is the result of red blood cells being destroyed too early.Nonspherocytic denotes that the red blood cells are not spherical like typical red blood cells.These characteristics are prese  Read More

There's no specific treatment for norovirus infection. Recovery generally depends on the health of your immune system. In most people, the illness usually resolves within a few days.  Read More

Fluid-filled sac-like pockets on or in your pancreas are known as pancreatic cysts. A sizable organ located beyond the stomach called the pancreas makes hormones and enzymes that aid in food digestion.Typically, pancreatic cysts are discovered during imaging tests for another issue. There are several factors that decide how you deal with a pancreatic cyst, such as the size of the cyst, the type and characteristics,  Read More

What is a peptic ulcer? A peptic ulcer is a break in the inner lining of the esophagus, stomach, or duodenum. A peptic ulcer of the stomach is called a gastric ulcer; of the duodenum, a duodenal ulcer; and of the esophagus, an esophageal ulcer. Peptic ulcers occur when the lining of these organs is corroded by the acidic digestive (peptic) juices which are secreted by the cells of the stomach. A peptic ulcer differs from an erosion bec  Read More

Peritonitis is an infection within the peritoneum (a supportive membrane lining that surrounds and protects the internal abdominal organs). The condition is of 3 types: spontaneous, secondary, and tertiary.Antibiotics: An one-week antibiotic treatment can kill pathogenic bacteria, eliminating acute infection and reducing future complications.Commonly used antibiotics include carbapenems (beta-lactamase−resistant beta  Read More

Phosphoglycerate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of red blood cells, causing anemia.Cause:Pyruvate kinase deficiency is due to a mutation in the PKLR gene. There are four pyruvate kinase isoenzymes, two of which are encoded by the PKLR.Mutations in the PKLR gene, therefore, cause a deficiency in the pyruvate kinase e  Read More

Phytantic acid storage disease is a rare genetic disorder. It is also known as Adult Refsum Disease (ARD) and results in numbness or weakening in the hands and feet (peripheral neuropathy).Risk factors-This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.The parents of an individual with an autosomal recessive condition e  Read More

Pinworms infection, also known as enterobiasis or oxyuriasis, is a highly contagious infection of the colon and rectum that causes itching in and around the anal region, causing restlessness and discomfort. It is typically caused by ingesting or inhaling pinworm eggs, which later hatch and mature in the intestine. It affects people of all ages and backgrounds.The following are both home and professional remedies fo  Read More

Portal hypertension is an increase in blood flow within the portal venous system, which is a network of veins.The portal vein is formed by veins from the stomach, small bowel, spleen, and pancreas, which then branch into smaller vessels and travel through the liver.Blood cannot flow appropriately through the liver if the vessels in the hepatic are blocked due to liver damage.As a result, pressure  Read More

Propionic acidemia (PA) is an inherited disorder that unbales a person to digest certain types of protein and fats. Moreover, this condition leads to an abnormal buildup of particular acids known as organic acid since it is regarded as an organic acid disorder. Here are some risk factors associated with Propionic acidemia:Inheritance: PA has been inherited in such a pattern that both copies of gene PCCA and PCCB in  Read More

Pyroglutamicaciduria (PGA) is a rare metabolic disorder that causes high levels of PGA in the blood.Pyroglutamic acid (PA) is an intermediate product of glutamine metabolism.Glutamine is a non-essential amino acid that is abundant in the body and is involved in many metabolic processes.PA is formed from glutamine via transamination reactions involving glutamate dehydrogenase (GDH).PA is e  Read More

Why does reflux laryngitis occur? Reflux is caused by weakness in the muscle at the junction of the esophagus with the stomach. Normally, this muscular valve, or sphincter, functions to keep food and stomach acid from moving upward from the stomach to the esophagus and larynx. This valve opens to allow food into the stomach and closes to keep the stomach's contents from coming back up. The backward movement of stomach contents (gastric  Read More

There is no cure for rheumatic diseases except infectious arthritis. Treatments and medications can be divided into short-term and long-term reliefs. Short term reliefs focus on massage, joint immobilization, etc.Long-term relief includes medications like:Oral analgesics, or painkillers, such as over-the-counter acetaminophen, and prescription narcotics, or opioids, like oxycodone and hydrocodone, which  Read More

Possible signs and symptoms of salmonella infection include: Diarrhea Stomach (abdominal) cramps Fever Nausea Vomiting Chills Headache Blood in the stool Signs and symptoms of salmonella infection generally last a few days to a week. Diarrhea may last up to 10 days, but it may take several months before bowels return to usual stool habits.  Read More

SCAD deficiency is the deficiency of the enzyme short-chain acyl-CoA dehydrogenase in the body. It is a condition that prevents the body from converting certain fats into energy.Symptoms of SCAD deficiency.Infants and small children suffer from failure to thrive because of the SCAD deficiency.It may also affect their development, feeding and normal physiological work.Infants also suffe  Read More

Schatzki ring is a product of the body's response mechanism to repeated exposure to acid that occurs during gastroesophageal acid reflux and a way to prevent the development of Barret's esophagus. It appears as a thin membranous structure, containing an upper layer comprising squamous epithelial cells and a lower layer comprising columnar epithelial cells.Schatzki ring is always associated with dyspnoea and  Read More

Sucrase-isomaltase deficiency, congenital, is a genetic disorder that results in a person’s disability in digesting various kinds of sugar such as maltose and sucrose.Maltose is found in grains and sucrose is found in fruits, often known as table sugar. Moreover, during digestion, maltose break down into two glucose molecules, and sucrose metabolizes into glucose and fructose.SI gene mutation results  Read More

Mostly, healthy people need not undergo toxoplasmosis treatment. If you have signs and symptoms of acute toxoplasmosis, the following drugs may be prescribed:Pyrimethamine (Daraprim): A folic acid antagonist that may prevent your body from absorbing the B vitamin folate (folic acid, vitamin B-9). Hence, your doctor may recommend taking additional folic acid.Sulfadiazine: This antibiotic is used along with  Read More

The most common signs and symptoms of traveler's diarrhea are: Abrupt onset of passage of three or more looser watery stools a day An urgent need to defecate Abdominal cramps Nausea Vomiting Fever Sometimes, people experience moderate to severe dehydration, persistent vomiting, a high fever, bloody stools, or severe pain in the abdomen or rectum. If you or your ch  Read More

After you eat roundworm (trichinella) larvae, they grow into adult worms in your small intestine. The adults then produce larvae that move through the bloodstream to muscle tissues, shown here. Signs and symptoms of trichinosis infection and how severe the infection is can vary. This depends on the number of larvae eaten in the infected meat. Possibly no signs or symptoms Mild cases of trichinosis — those with onl  Read More

Tropical sprue is a disorder that affects persons who spend long periods of time in tropical settings. It reduces nutrition absorption from the intestines. TS is a condition marked by chronic or acute diarrhea, weight loss, and nutritional malabsorption. Injury to the intestinal wall causes this condition. It is caused by an overabundance of certain kinds of bacteria in the intestines.The following are risk factors  Read More

Typhoid is an infectious disease that causes fever, also known as enteric fever. The causative agents are salmonella typhi and paratyphi. Typhoid presents non-specific symptoms. It initially starts with nausea and vomiting that progress to abdominal pain, anorexia, and bloating. It is followed by a small asymptomatic phase that leads to a high fever. If left undiagnosed and treated, the abdominal distress worsens and causes bo  Read More

Typically, drugs are used to treat mild-to-moderate ulcers.Antibiotics Antibiotics can treat an ulcer caused by the H. pylori bacteria. Typically, the doctor may prescribe triple or quadruple therapy, which includes numerous antibiotics as well as heartburn medication. Triple therapy includes the use of two antibiotics, such as amoxicillin and clarithromycin, as well as a proton pump i  Read More

Ulcerative colitis is a chronic inflammation of the large intestine (colon). The colon is the part of the digestive system where water is removed from undigested material, and the remaining waste material is stored. The rectum is the end of the colon adjacent to the anus. In patients with ulcerative colitis, ulcers and inflammation of the inner lining of the colon lead to symptoms of abdominal pain, diarrhea, and rectal bleeding. Ulcer  Read More

Urea Cycle Disorder (UCD) affects about 1 in 35,000 newborns.Currently, there is no clarity regarding the exact incidence of these disorders. Many infants born with these defects die without a clear diagnosis or many cases are not diagnosed. According to researchers, urea cycle disorders in newborns are 1 in 10,000 as of April 2000. This indicates a marked increase in the identificatio  Read More

What is the urethra? The urethra is the opening that allows urine to leave the bladder. In men, the urethra is a thin tube-like structure that starts from the lower opening of the bladder and traverses the entire length of the penis. In women, it is a shorter opening coming off the lower opening of bladder and is between 2.5 to 4 centimeters (cm) in length. The urethra has a sphincter that is normally closed to keep urine insid  Read More

Valinemia is a rare metabolic disease marked by unusually elevated amounts of the amino acid valine in the urine and blood.Infants with valinemia are said to have a poor appetite, puking, and fail to thrive. In rare situations, the condition is potentially fatal.There have also been reports of low muscular tone (hypotonia), excessive sleepiness, hyperactivity, and developmental delay.Valinemia is  Read More

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).Low blood sugar (hypoglycemia), tiredness (lethargy), and muscle weakness are major symptoms of VLCAD deficiency in infancy and early childhood.Individuals who are affected are also at risk of major consequences, including liver problems  Read More

Von Frey’s syndrome is a kind of syndrome characterized by sweating while eating (gustatory sweating) and facial flushing. The condition occurs due to the nerve injury known as the auriculotemporal nerve, followed by surgical trauma to the parotid gland.The parotid glands are the largest salivary gland in the body, located below the ears on either side of the face. When the nerve heals, it will get reattached  Read More

These are symptoms of von Gierke disease: Constant hunger and need to eat often Easy bruising and nosebleeds Fatigue Irritability Puffy cheeks, thin chest and limbs, and swollen belly  Read More

Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by abnormally enlarged (dilatated) lymph vessels supplying the lining of the small intestine. The main symptoms are swelling of the limbs and abdominal discomfort. The disorder is usually diagnosed before three years of age but is sometimes diagnosed later in life.  Read More

Digestive signs and symptoms are common in Whipple disease and may include: Diarrhea Stomach cramping and pain, which may worsen after meals Weight loss, associated with the malabsorption of nutrients Other frequent signs and symptoms associated with Whipple disease include: Inflamed joints, particularly the ankles, knees and wrists Fatigue Weakness  Read More

Congenital zinc deficiency is an inborn error mechanism in thezinc availability in the body. Although dietary variables are frequently the cause of zinc deficiency, various genetic abnormalities of zinc insufficiency have been reported. The most frequently reported inherited human ailment is acrodermatitis enteropathica. In several of the few cases that have been reported, this disorder is associated with mutations in the hZIP4 gene, a member o  Read More