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 presentations are hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance.
Category
Inherited metabolic disorder
Brite
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-based classification of diseases [BR:br08402]
 Carbohydrate metabolism
  nt06017  Glycogen metabolism
   H01952  Glycogen storage disease type XII
Pathway
hsa00010  Glycolysis / Gluconeogenesis
Network
nt06017 Glycogen metabolism
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
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