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glycogen storage disease type I

Used for:

glucose 6 phosphatase deficiency

Used for:

glycogenosis type I

Used for:

hepatorenal glycogen storage disease

Used for:

hepatorenal glycogenosis

Used for:

von Gierke's disease

Broader Terms:

glycogen storage disease

Scope Note:

autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.

Term Number:

1849-3779

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