KEGG   DISEASE: Pyruvate dehydrogenase E1-alpha deficiency
Entry
H01997                      Disease                                
Name
Pyruvate dehydrogenase E1-alpha deficiency
  Supergrp
Pyruvate dehydrogenase complex deficiency [DS:H00072]
Description
Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome. The great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene.
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
    5C53  Inborn errors of energy metabolism
     H01997  Pyruvate dehydrogenase E1-alpha deficiency
Pathway-based classification of diseases [BR:br08402]
 Carbohydrate metabolism
  nt06031  Citrate cycle and pyruvate metabolism
   H01997  Pyruvate dehydrogenase E1-alpha deficiency
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00620  Pyruvate metabolism
Network
nt06031 Citrate cycle and pyruvate metabolism
Gene
PDHA1 [HSA:5160] [KO:K00161]
Other DBs
ICD-11: 5C53.02
ICD-10: E74.4
MeSH: C564071
OMIM: 312170
Reference
PMID:9686362
  Authors
De Meirleir L, Specola N, Seneca S, Lissens W
  Title
Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.
  Journal
J Inherit Metab Dis 21:224-6 (1998)
DOI:10.1023/A:100534750
Reference
PMID:10679936
  Authors
Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A
  Title
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
  Journal
Hum Mutat 15:209-19 (2000)
DOI:10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
Reference
PMID:7887408
  Authors
Dahl HH
  Title
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
  Journal
Am J Hum Genet 56:553-7 (1995)
LinkDB

» Japanese version

DBGET integrated database retrieval system