Glycogen Storage Disease Type I D005953

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

Phase 2 Indicated Drugs (1)

Other Experimental Indicated Drugs (2)


Organization Involved with Phase 2 Indications (2)

Organization Involved with Phase 1 Indications (2)

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