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.

Year introduced: 1991(1989)

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Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C16.320.565.202.449.540, C18.452.648.202.449.540

MeSH Unique ID: D006011

Entry Terms:

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

Previous Indexing:

• Glucosyltransferases/metabolism (1966-1974)
• Glycogenosis (1966-1974)
• Liver Diseases (1966-1974)

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Glycogen Storage Disease
Glycogen Storage Disease Type IV

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Glycogen Storage Disease
Glycogen Storage Disease Type IV