Glycogen Storage Disease Type IV

An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Also Known As:

Andersen's Disease; Glycogenosis, Type IV; Amylopectinosis; Andersen Disease; Deficiency, Brancher; Gbe1 Deficiency; Glycogen Branching Enzyme Deficiency; Glycogen Storage Disease Type 4; Glycogenosis IV; Type IV Glycogenosis; Amylopectinoses; Andersens Disease; Brancher Deficiencies; Deficiencies, Brancher; Deficiencies, Gbe1; Deficiency, Gbe1; Disease, Andersen; Disease, Andersen's; Gbe1 Deficiencies; Glycogenoses, Type IV; Glycogenosis 4s; Glycogenosis IVs; Type IV Glycogenoses; Brancher Deficiency; Glycogenosis 4

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1489
        Glycogen Storage Disease Type IV: 121
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Glycogen Storage Disease: 1489
        Glycogen Storage Disease Type IV: 121

H Orhan Akman Selected Research

H Orhan Akman Research Topics

Disease

Drug/Important Bio-Agent (IBA)