About glycogen storage disease i

What is glycogen storage disease i?

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. GSDI is associated with abnormalities in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB) that result in enzyme deficiencies that cause excess amounts of glycogen accumulation in the body tissues and low levels of glucose in the blood. This enzyme deficiency also results in derangement of other important metabolites in the body thus causing imbalance or excessive accumulation of these metabolites.

What are the symptoms for glycogen storage disease i?

Hyperlipidemia symptom was found in the glycogen storage disease i condition

The primary symptom of GSDI in infancy is a low blood sugar level (hypoglycemia). Symptoms of GSDI usually begin at three to four months of age and include enlargement of the liver (hepatomegaly), kidney (nephromegaly), elevated levels of lactate, uric acid and lipids (both total lipids and triglycerides), and possible Seizures caused due to repeated episodes of hypoglycemia. Continued low blood sugar can lead to delayed growth and development and muscle Weakness. Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen.

High lipid levels can lead to the formation of fatty skin growths called xanthomas. Other conditions that can be associated with untreated GSD1 include; osteoporosis, delayed puberty, gout (arthritis caused by accumulation of uric acid), kidney disease, pulmonary hypertension (high blood pressure in the arteries that supply the lungs), hepatic adenoma (benign liver tumors), polycystic ovaries in females, an inflammation of the pancreas (pancreatitis), Diarrhea and changes in brain function due to repeated episodes of hypoglycemia.

Impaired platelet function can lead to a bleeding tendency with frequent nose bleeds (epistaxis). In general GSD type Ib patients have similar clinical manifestations as type Ia patients, but in addition to the above mentioned manifestations, GSDIb is also associated with impaired neutrophil and monocyte function as well as chronic neutropenia after the first few years of life, all of which result in recurrent bacterial infections and oral and intestinal mucosal ulcers.

Early diagnosis and effective treatment can result in normal growth and puberty and many affected individuals live into adulthood and enjoy normal life activities. Many female patients have had successful pregnancies and childbirth.

What are the causes for glycogen storage disease i?

Type I glycogen storage disease is associated with abnormalities in two genes. Mutations in the G6PC gene result in a deficiency in the glucose-6-phosphatase (G6Pase) enzyme and account for approximately 80% of GSDI. This type of GSDI is termed glycogen storage disease type Ia. Mutations in the SLC37A4 gene result in a deficiency in the glucose-6-phosphatase translocase enzyme (transporter deficiency) and account for approximately 20% of GSDI. This type of GSDI is termed glycogen storage disease type Ib. Both these enzyme deficiencies cause excess amounts of glycogen along with fats to be stored in the body tissues.

Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for glycogen storage disease i?

Treatment GSDI is treated with a special diet in order to maintain normal glucose levels, prevent hypoglycemia and maximize growth and development. Frequent small servings of carbohydrates must be maintained during the day and night throughout the life. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits. Frequent feedings of uncooked cornstarch are used to maintain and improve blood levels of glucose. Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years. Medications maybe prescribed to lower lipid levels and prevent and/or treat kidney disease. Human granulocyte colony stimulating factor (GCSF) may be used to treat recurrent infections in GSD type Ib patients. Liver tumors (adenomas) can be treated with minor surgery or a procedure in which adenomas are ablated using heat and current (radiofrequency ablation). Kidney and/or liver transplantation are sometimes considered if other therapies are unsuccessful or where liver adenomas keep growing.

Individuals with GSDI should be monitored at least annually with kidney and liver ultrasound and routine blood work specifically used for monitoring GSD patients.

Genetic counseling is recommended for affected individuals and their families.

What are the risk factors for glycogen storage disease i?

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 and kidneys and growth retardation leading to short stature.
  • Glycogen storage disease is passed down from parents to children (inherited). If the family member has GSDI, then the individual is at more risk of developing the disorder.
  • If an individual inherits one working gene and one non-working gene for the disease, the person will be a carrier of the disease. However, he/she will not show symptoms.



Conditions
Hypoglycemia,Hyperlipidemia,Glycogen depositions in liver, kidney and muscles
Drugs
Allopurinol,Niacin,Fibrates,Statins,ACE inhibitors
Symptoms
Hypoglycemia,Seizures,Lactic acidosis,Hyperurecemia,Hyperlipidemia,Xanthamos,Diarrhea,Delayed puberty,Gout,Adenoma,Hepatomegaly splenomegaly

Is there a cure/medications for glycogen storage disease i?

Glycogen storage disorder type 1 is an autosomal recessive disorder. The disorder has two subtypes, A and B. Type 1A is caused by the mutation in the gene that instructs the synthesis of glucose-6-phosphatase and type 1B results from a mutation in the genes SLC37A4 for glucose-6-phosphate translocase. Due to the mutations, the gene products are non-functional or deficient; this enhances the synthesis of glycogen in excess. The accumulation occurs in the liver, kidney, and intestinal mucosa.
Treatment/management

  • Since the symptoms appear by the age of 3 months, infants need glucose and fibers rich feed every 3-4 hours. As it is difficult to wake in between night-long sleep, infants are inserted with a nasogastric tube or G tube placed surgically.
  • Diet rich in galactose and lactose, such as milk and fruits must be restricted to minimal intake.
  • Corn starch provides sustained glucose release for a long time due to its slow digestion
  • Oral citrate and bicarbonate to treat persistent lactic acidosis. These increase the alkalinity of the urine and thus prevent urolithiasis and nephrocalcinosis.
  • Allopurinol reduces the attacks of gout by decreasing the uric acid concentration.
  • Niacin, fibrates, and statins help control lipid levels. Dietary interventions such as fish oil also reduce lipid levels.
  • A liver function test should be run every six months. In the case of multifocal lesions in the liver, Liver transplantation is an option.
  • ACE inhibitors are prescribed for patients with microalbuminuria to prevent renal complications.


Conditions
Hypoglycemia,Hyperlipidemia,Glycogen depositions in liver, kidney and muscles
Drugs
Allopurinol,Niacin,Fibrates,Statins,ACE inhibitors
Symptoms
Hypoglycemia,Seizures,Lactic acidosis,Hyperurecemia,Hyperlipidemia,Xanthamos,Diarrhea,Delayed puberty,Gout,Adenoma,Hepatomegaly splenomegaly

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