Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

25 entry terms
  • Amylopectinosis
  • Andersen Disease
  • Andersen's Disease
  • Brancher Deficiency
  • Deficiency, Brancher
  • Gbe1 Deficiency
  • Glycogen Branching Enzyme Deficiency
  • Glycogen Storage Disease Type 4
  • Glycogenosis 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
  • Glycogenosis, Type IV
  • Type IV Glycogenoses

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis

MeSH Record

History Note

1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988

MeSH Record

Previous Indexing

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

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.202w.449w.540w
  2. C18.452w.648w.202w.449w.540w

AMA Style

References

  1. National Library of Medicine. Glycogen Storage Disease Type IV. Medical Subject Headings (MeSH). 2026. Unique ID D006011. http://id.nlm.nih.gov/mesh/2026/D006011
  2. Glycogen Storage Disease Type IV. In: Wikipedia. https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_IV
  3. Glycogen Storage Disease Type IV. In: Wikidata. https://www.wikidata.org/wiki/Q829150