KEGG   DISEASE: Glycogen storage disease type XIHelp
Entry
H01946                      Disease                                

Name
Glycogen storage disease type XI;
Lactate dehydrogenase A deficiency
  Supergrp
Glycogen storage disease [DS:H00069]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01946  Glycogen storage disease type XI
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
     H01946  Glycogen storage disease type XI
BRITE hierarchy
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00620  Pyruvate metabolism
Network
nt06017  Glycogen metabolism
  Element
N00733  LDHA deficiency in glycolysis
Gene
LDHA [HSA:3939] [KO:K00016]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C538133
OMIM: 612933
Reference
PMID:2334430
  Authors
Maekawa M, Sudo K, Kanno T, Li SS
  Title
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.
  Journal
Biochem Biophys Res Commun 168:677-82 (1990)
DOI:10.1016/0006-291X(90)92374-9
Reference
PMID:3383424 (marker)
  Authors
Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K
  Title
Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy.
  Journal
Clin Chim Acta 173:89-98 (1988)
DOI:10.1016/0009-8981(88)90359-2
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