Gierkes Disease

《英文msh詞典》Gierkes Disease
[入口詞] Gierkes Disease
[主題詞] Glycogen Storage Disease Type I
[英文釋義] 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.