KEGG   DISEASE: Glycogen storage disease type XIII
Entry
H01953                      Disease                                

Name
Glycogen storage disease type XIII
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical presentation is exercise intolerance and myalgias.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01953  Glycogen storage disease type XIII
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
     H01953  Glycogen storage disease type XIII
Pathway
hsa00010  Glycolysis / Gluconeogenesis
Network
nt06017  Glycogen metabolism
  Element
N00735  ENO3 deficiency in glycolysis
Gene
ENO3 [HSA:2027] [KO:K01689]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C567861
OMIM: 612932
Reference
  Authors
Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
  Title
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
  Journal
Ann Neurol 50:202-7 (2001)
DOI:10.1002/ana.1095
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