Pyruvate dehydrogenase complex deficiency

[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]