Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Glycogen Storage Disease » Glycogen Storage Disease Type I
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Glycogen Storage Disease » Glycogen Storage Disease Type I
Description
An 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. MeSH
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Phase 3 Indicated Drugs (2)
Phase 2 Indicated Drugs (2)
Other Experimental Indicated Drugs (2)
Organization Involved with Phase 2 Indications (2)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (3)
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