What enzyme is deficient in von Gierke disease?
What enzyme is deficient in von Gierke disease?
In GSD Ia, there is a deficiency of enzyme glucose-6-phosphatase (G6Pase) which cleaves glycogen to glucose thus leading to hypoglycemia and lactic acidosis.
Which disease occurs due to deficiency of glucose-6-phosphatase?
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
What is the function of glucose-6-phosphatase?
The classical role of glucose-6-phosphatase in liver and kidney is the production of glucose for release into blood. In liver, glucose-6-phosphatase catalyses the terminal step of glycogenolysis and gluconeogenesis.
Why is there no glucose-6-phosphatase in muscle?
There does not appear to be glucose 6-phosphatase in skeletal muscle; hence, muscle glycogen is not a source of circulating glucose. Along with elevated glycogenolysis and glucogenesis with fasting, there is increased glucose 6-phosphatase activity in the liver (chicken: O’Neill and Langlow, 1978).
How is von Gierke disease treated?
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.
What kind of disease is von Gierke disease?
Glucose-6-phosphatase deficiency (G6PD, MIM #232200), also known as von Gierke disease, is a glycogen storage disease (GSD). It was the first GSD to have the responsible enzyme defect identified and therefore is designated GSD I ( table 1 ). The defective enzymes involved in GSD I are mainly active in the liver and kidney.
How to diagnose von Gierke’s glycogen storage disease?
Definitive diagnosis involves assessment of glucose-6-phosphatase activity in fresh and frozen liver tissue specimens. Histology shows increased amounts of normal glycogen, as well as fatty infiltration of the liver. Kidneys may show glomerular hypertrophy and glomerulosclerosis.
What kind of glycogen storage disease is G6PD?
Glucose-6-phosphatase deficiency (G6PD, MIM #232200), also known as von Gierke disease, is a glycogen storage disease (GSD).
What causes Type Ia and Type Ib in von Gierke?
Glucose-6-phosphatase deficiency is the cause of type Ia and should not be confused with glucose-6-phosphate dehydrogenase deficiency. There is a specific translocase deficiency in type Ib. Individuals with type lb also have altered neutrophil function predisposing them to Gram-positive bacterial infections.
Glucose-6-phosphatase deficiency (G6PD, MIM #232200), also known as von Gierke disease, is a glycogen storage disease (GSD). It was the first GSD to have the responsible enzyme defect identified and therefore is designated GSD I ( table 1 ). The defective enzymes involved in GSD I are mainly active in the liver and kidney.
Glucose-6-phosphatase deficiency (G6PD, MIM #232200), also known as von Gierke disease, is a glycogen storage disease (GSD).
What are the causes of glycogen storage disease type Ia?
Causes. 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.
What do you need to know about glucose 6 phosphatase deficiency?
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