Diseases

Glycogen Storage Disease Type VII

An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

18 entry terms
  • Deficiency, Muscle Phosphofructokinase
  • GSD VII
  • Glycogen Storage Disease VII
  • Glycogenosis 7
  • Muscle Phosphofructokinase Deficiency
  • Pfkm Deficiency
  • Tarui Disease
  • Tarui's Disease
  • Deficiencies, Muscle Phosphofructokinase
  • Deficiencies, Pfkm
  • Deficiency, Pfkm
  • Disease, Tarui
  • Disease, Tarui's
  • Muscle Phosphofructokinase Deficiencies
  • Pfkm Deficiencies
  • Phosphofructokinase Deficiencies, Muscle
  • Phosphofructokinase Deficiency, Muscle
  • Taruis Disease

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 use /congen & do not coord with INFANT, NEWBORN, DISEASES

MeSH Record

History Note

91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88

MeSH Record

Previous Indexing

  • Glycogenosis (1966-1974)

MeSH Hierarchy

Tree Numbers

  1. C05w.651w.534.500w.149w
  2. C10w.668w.491w.175.500w.112w
  3. C16w.320w.565w.202w.449w.600w
  4. C16w.320w.577w.149w
  5. C18.452w.648w.202w.449w.600w

AMA Style

References

  1. National Library of Medicine. Glycogen Storage Disease Type VII. Medical Subject Headings (MeSH). 2026. Unique ID D006014. http://id.nlm.nih.gov/mesh/2026/D006014
  2. Glycogen Storage Disease Type VII. In: Wikipedia. https://en.wikipedia.org/wiki/Phosphofructokinase_deficiency
  3. Glycogen Storage Disease Type VII. In: Wikidata. https://www.wikidata.org/wiki/Q1251847