Select a specific condition below to view its details.
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
- Argininosuccinate lyase deficiency
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
- Brandt syndrome
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
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
- Colitis, collagenous
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
- Crohn's disease
Inflammation in and around the digestive tract and whole excretion system caused is by Crohn’s Disease. It is one type of IBD (Inflammatory Bowel Disease). This swelling creates issues in easy bowel movements and results in pain, vomiting, nausea, constipation, and many more related problems.Diagnosis:There are two methods with which doctors can get assured of the disease:Laboratory Te Read More
- Cryptophthalmos-syndactyly syndrome
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
- Familial jaundice
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
- Hartnup disease
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
- Phytanic acid storage disease
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
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
- Zinc deficiency, congenital
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