Pyruvate dehydrogenase complex deficiency

Definition:

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. The PDH complex comprises three catalytic subunits, PDH (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed to play a role in the attachment of E3 to the E2 core.

References:

[1]. B Aral, et al. Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. Am J Hum Genet. 1997 Dec;61(6):1318-26. [Content Brief]

[2]. Brian H Robinson, et al. Lactic acidemia and mitochondrial disease. Mol Genet Metab. 2006 Sep-Oct;89(1-2):3-13. [Content Brief]

[3]. G K Brown, et al. Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov;31(11):875-9. [Content Brief]

[4]. M C Maj, et al. Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):1-9. [Content Brief]

[5]. Manop Pithukpakorn, et al. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab. 2005 Aug;85(4):243-6. [Content Brief]

[6]. Manuèle Miné, et al. A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2006 Sep-Oct;89(1-2):106-10. [Content Brief]

[7]. Olga Grafakou, et al. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr. 2003 Oct;162(10):714-8. [Content Brief]

[8]. Vamsi K Mootha, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. [Content Brief]

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