Glycogen Storage Disease Type I

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.

Also Known As:

Deficiency, Glucosephosphatase; Gierke Disease; Gierke's Disease; Glycogen Storage Disease 1 (GSD I); von Gierke's Disease; Deficiencies, Glucose-6-Phosphatase; Deficiencies, Glucosephosphatase; Deficiency, Glucose-6-Phosphatase; Disease, Gierke; Disease, Gierke's; Disease, von Gierke; Disease, von Gierke's; Gierkes Disease; Glucose 6 Phosphatase Deficiency; Glucose-6-Phosphatase Deficiencies; Glucosephosphatase Deficiencies; von Gierkes Disease; Glucose-6-Phosphatase Deficiency; Glucosephosphatase Deficiency; Glycogenosis 1; Hepatorenal Glycogen Storage Disease; von Gierke Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1461
        Glycogen Storage Disease Type I: 207
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1461
        Glycogen Storage Disease Type I: 207

Gerson Carreiro Selected Research

Gerson Carreiro Research Topics

Disease

Therapy/Procedure