KEGG   DISEASE: Glycogen storage disease type X
Entry
H01951                      Disease                                

Name
Glycogen storage disease type X
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The typical presentation is exercise intolerance, cramps, and myoglobinuria.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01951  Glycogen storage disease type X
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
     H01951  Glycogen storage disease type X
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00260  Glycine, serine and threonine metabolism
hsa04922  Glucagon signaling pathway
Network
nt06017  Glycogen metabolism
  Element
N00737  PGAM2 deficiency in glycolysis
Gene
PGAM2 [HSA:5224] [KO:K01834]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C536176
OMIM: 261670
Reference
PMID:8447317
  Authors
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
  Title
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
  Journal
Am J Hum Genet 52:472-7 (1993)
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