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Disease Glycogen Storage Disease Type I

Name Glycogen Storage Disease Type I
Synonyms Deficiencies, Glucose-6-Phosphatase | Deficiencies, Glucosephosphatase | Deficiency, Glucose-6-Phosphatase | Deficiency, Glucosephosphatase | Disease, Gierke | Disease, Gierke's | Disease, von Gierke | Disease, von Gierke's | Gierke Disease | Gierke's Disease | Gierkes Disease | Glucose-6-Phosphatase Deficiencies | Glucose 6 Phosphatase Deficiency | Glucose-6-Phosphatase Deficiency | Glucosephosphatase Deficiencies | Glucosephosphatase Deficiency | Glycogenosis 1 | Glycogen Storage Disease 1 (GSD I) | Hepatorenal Glycogen Storage Disease | von Gierke Disease | von Gierke's Disease | von Gierkes Disease
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D005953
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type I Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Glycogen Storage Disease Has associated chemicals Has associated genes Glycogen Storage Disease Type I Has associated chemicals Has associated genes

Top ↑ Descendants

Glycogen Storage Disease Type I Has associated chemicals Has associated genes
  Glucose-6-phosphate translocase deficiency
  Glycogen Storage Disease IB Has associated chemicals Has associated genes
  Glycogen Storage Disease Id
  Hepatorenal form of glycogen storage disease Has associated chemicals Has associated genes