KEGG   DISEASE: Pyruvate dehydrogenase E1-beta deficiencyHelp
Entry
H01998                      Disease                                

Name
Pyruvate dehydrogenase E1-beta deficiency
  Supergrp
Pyruvate dehydrogenase complex deficiency [DS:H00072]
Description
Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) has been reported. Primary defects in the E1 beta subunit of the PDH complex appear to be extremely rare.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01998  Pyruvate dehydrogenase E1-beta deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01998  Pyruvate dehydrogenase E1-beta deficiency
BRITE hierarchy
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00620  Pyruvate metabolism
Gene
PDHB [HSA:5162] [KO:K00162]
Other DBs
ICD-11: 5C53.02
ICD-10: E74.4
MeSH: C566729
OMIM: 614111
Reference
  Authors
Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK
  Title
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
  Journal
Hum Genet 115:123-7 (2004)
DOI:10.1007/s00439-004-1124-8
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