KEGG   DISEASE: Glycogen storage disease type XII
Entry
H01952                      Disease                                

Name
Glycogen storage disease type XII
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical presentation is hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01952  Glycogen storage disease type XII
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
     H01952  Glycogen storage disease type XII
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00030  Pentose phosphate pathway
hsa00051  Fructose and mannose metabolism
Network
nt06017  Glycogen metabolism
  Element
N00739  ALDOA deficiency in glycolysis
Gene
ALDOA [HSA:226] [KO:K01623]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C562718
OMIM: 611881
Reference
PMID:8598869
  Authors
Kreuder J, Borkhardt A, Repp R, Pekrun A, Gottsche B, Gottschalk U, Reichmann H, Schachenmayr W, Schlegel K, Lampert F
  Title
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
  Journal
N Engl J Med 334:1100-4 (1996)
DOI:10.1056/NEJM199604253341705
LinkDB

» Japanese version

DBGET integrated database retrieval system