KEGG   DISEASE: Glycogen storage disease type V
Entry
H01943                      Disease                                

Name
Glycogen storage disease type V;
McArdle disease
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen phosphorylase. It is characterized by exercise intolerance, muscle cramping, and myoglobinuria.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01943  Glycogen storage disease type V
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
     H01943  Glycogen storage disease type V
Pathway
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
Network
nt06017  Glycogen metabolism
  Element
N00722  PYGM deficiency in glycogen degradation
Gene
PYGM [HSA:5837] [KO:K00688]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006012
OMIM: 232600
Reference
PMID:16924035 (gene marker)
  Authors
Andersen ST, Duno M, Schwartz M, Vissing J
  Title
Do carriers of PYGM mutations have symptoms of McArdle disease?
  Journal
Neurology 67:716-8 (2006)
DOI:10.1212/01.wnl.0000230154.79933.d7
Reference
  Authors
Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C
  Title
McArdle disease: molecular genetic update.
  Journal
Acta Myol 26:53-7 (2007)
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