A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction.
- Resource Type
- Academic Journal
- Authors
- Benelli C; INSERM U530, Hĵpital Necker, Paris, France.; Fouque F; Redonnet-Vernhet I; Malgat M; Fontan D; Marsac C; Dey R
- Source
- Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
- Subject
- Language
- English
- ISSN
- 0141-8955
We identified a new Y243S mutation in the X-linked E1 alpha-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentrations, indicating that the defect could be due to decreased affinity of PDHc for TPP.