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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01997  Pyruvate dehydrogenase E1-alpha 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
     H01997  Pyruvate dehydrogenase E1-alpha deficiency
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00620  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
  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
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)
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