KEGG   DISEASE: Glycogen storage disease type VII
Entry
H01945                      Disease                                

Name
Glycogen storage disease type VII;
Tarui disease
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01945  Glycogen storage disease type VII
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01945  Glycogen storage disease type VII
Pathway
hsa00010  Glycolysis / Gluconeogenesis
Network
nt06017  Glycogen metabolism
  Element
N00740  PFKM deficiency in glycolysis
Gene
PFKM [HSA:5213] [KO:K00850]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006014
OMIM: 232800
Reference
PMID:7603526
  Authors
Nakagawa C, Mineo I, Kaido M, Fujimura H, Shimizu T, Hamaguchi T, Nakajima H, Tarui S
  Title
A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.
  Journal
Muscle Nerve Suppl 3:S39-44 (1995)
DOI:10.1002/mus.880181410
Reference
PMID:8889589
  Authors
Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y
  Title
Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
  Journal
LinkDB

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