A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Bachmann Gagescu, R ^a   Merritt II, J Lawrence ^a   Hahn, S H ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84897579366     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1101-4     Document Type: Article

References (11)

1. Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH (2004) Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1 alpha gene. Am J Med Genet A 131: 59-66 (Pubitemid 39434795)
2. Chun K, MacKay N, Petrova-Benedict R, Robinson BH (1993) Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. Hum Mol Genet 4: 449-454 (Pubitemid 23107223)
3. Chun K, MacKay N, Petrova-Benedict R et al (1995) Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet 56: 558-569
4. Debray FG, Lambert M, Gagne R et al (2008) Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics 39: 20-23 (Pubitemid 351828312)
5. Kerr DS, Berry SA, Lusk MM, Ho L, Patel MS (1988) A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. Pediatr Res 24: 95-100
6. Lissens W, De Meirleir L, Seneca S et al (2000) Mutation in the X-linked pyruvate dehydrogense (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 15: 209-219 (Pubitemid 30132155)
7. Marsac C, Beneli C, Desguerre I et al (1997) Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. Hum Genet 99: 785-792 (Pubitemid 27243759)
8. Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H (1997) Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. J Inherit Metab Dis 20: 539-548 (Pubitemid 27354849)
9. Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Kuroda Y (2002) Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. J Neurol Sci 201: 33-37 (Pubitemid 34876902)
10. Robinson BH, MacMillan H, Petrova-Benedict R, Sherwood WG (1987) Variable clinical presentation with defective E1 component of the pyruvate dehydrogenase complex. J Pediatr 111: 525-533 (Pubitemid 17140529)
11. Wexler ID, Hemalatha SG, Liu T, Berry SA, Kerr DS, Patel MS (1992) A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of the pyruvate dehydrogenase complex deficiency. Pediatr Res 32: 169-174