KEGG   DISEASE: H00072Help
Entry
H00072                      Disease                                

Name
Pyruvate dehydrogenase complex deficiency, including:
Leigh syndrome [DS:H01354];
Pyruvate dehydrogenase phosphatase deficiency;
Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)
Description
Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. Pyruvate dehydrogenase phosphatase (PDP) is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported that the mutations in PDP1 result in severe exercise intolerance and mild developmental delay.
Category
Inherited metabolic disease; Neurodegenerative disease
BRITE hierarchy
Pathway
Pyruvate metabolism
Glycolysis / Gluconeogenesis
Gene
PDHA1; pyruvate dehydrogenase E1 component subunit alpha 1 [HSA:5160] [KO:K00161]
PDHB; pyruvate dehydrogenase E1 component subunit beta [HSA:5162] [KO:K00162]
DLAT; pyruvate dehydrogenase E2 component, dihydrolipoamide acetyltransferase [HSA:1737] [KO:K00627]
DLD; dihydrolipoamide dehydrogenase [HSA:1738] [KO:K00382]
PDHX; pyruvate dehydrogenase complex component X [HSA:8050] [KO:K13997]
PPM2C; pyruvate dehyrogenase phosphatase catalytic subunit 1 [HSA:54704] [KO:K01102]
LRPPRC; Leucine-rich PPR motif-containing protein, mitochondrial [HSA:10128] [KO:K17964]
Other DBs
Reference
  Authors
Robinson BH
  Title
Lactic acidemia and mitochondrial disease.
  Journal
Mol Genet Metab 89:3-13 (2006)
Reference
  Authors
Mine M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C
  Title
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
  Journal
Mol Genet Metab 89:106-10 (2006)
Reference
  Authors
Pithukpakorn M
  Title
Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
  Journal
Mol Genet Metab 85:243-6 (2005)
Reference
  Authors
Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J
  Title
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
  Journal
Eur J Pediatr 162:714-8 (2003)
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
Hum Mutat 15:209-19 (2000)
Reference
PMID:7853374
  Authors
Brown GK, Otero LJ, LeGris M, Brown RM
  Title
Pyruvate dehydrogenase deficiency.
  Journal
J Med Genet 31:875-9 (1994)
Reference
  Authors
Maj MC, Cameron JM, Robinson BH
  Title
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
  Journal
Mol Cell Endocrinol 249:1-9 (2006)
Reference
  Authors
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES
  Title
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
  Journal
Proc Natl Acad Sci U S A 100:605-10 (2003)
Reference
PMID:9399911
  Authors
Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C
  Title
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
  Journal
Am J Hum Genet 61:1318-26 (1997)
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