What is glycogen storage disease type 1B?

Summary. Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body.

What causes Cori’s disease?

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

Why is there hyperuricemia in von Gierke disease?

Triglyceride levels in GSD I can reach several times normal and serve as a clinical index of “metabolic control”. Hyperuricemia results from a combination of increased generation and decreased excretion of uric acid, which is generated when increased amounts of G6P are metabolized via the pentose phosphate pathway.

What is the treatment for Type 1 glycogen storage disease?

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.

Can glycogen storage disease be cured?

In general, no specific treatment exists to cure glycogen storage diseases (GSDs). In most cases, the mainstay of management involves measures to reduce hypoglycemia, including frequent meals and consumption of uncooked cornstarch.

How does G6PD cause hyperuricemia?

Hyperuricemia [1,6] is caused by both decreased renal clearance (lactate competes with uric acid) and increased synthesis (decreased intrahepatic phosphate concentration stimulates the degradation pathway of adenine nucleotides).

How is von Gierke disease diagnosed?

Definitive diagnosis of Von Gierke Disease is by liver biopsy (examination of liver tissue), and assay of enzyme (glucose-6-phosphatase) activity. Gene testing, a recently available test that can detect mutations, provides a non-invasive technique for definitive diagnosis.

What causes Type 1 glycogen storage disease?

Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from genetic changes in the G6PC gene. This condition is inherited in an autosomal recessive pattern.

What is the action of G6PD?

This enzyme, which is active in virtually all types of cells, is involved in the normal processing of carbohydrates. It plays a critical role in red blood cells, which carry oxygen from the lungs to tissues throughout the body. This enzyme helps protect red blood cells from damage and premature destruction.

How do you increase G6PD levels?

A high vitamin D intake is recommended for people with the condition. This may help improve immune health, which is compromised in people with classes 1 to 3 of G6PD deficiency. Individuals with G6PD deficiency can continue to exercise to support their quality of life without an increased risk for hemolytic anemia.

What is the treatment of von Gierke disease?

The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.

How common is von Gierke disease?

Also known as von Gierke disease, is a more severe form of Glycogen Storage Disease. All Glycogen Storage diseases together affect fewer than 1 in 40,000 persons in the United States.