A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction

C Benelli; F Fouque; I Redonnet-Vernhet; M Malgat; D Fontan; C Marsac; R Dey

doi:10.1023/a:1016570828778

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction

J Inherit Metab Dis. 2002 Aug;25(4):325-7. doi: 10.1023/a:1016570828778.

Authors

C Benelli¹, F Fouque, I Redonnet-Vernhet, M Malgat, D Fontan, C Marsac, R Dey

Affiliation

¹ INSERM U530, Hĵpital Necker, Paris, France.

PMID: 12227466
DOI: 10.1023/a:1016570828778

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Western
Cells, Cultured
Fibroblasts
Humans
Infant
Male
Mutation, Missense / genetics*
Mutation, Missense / physiology*
Polymorphism, Single-Stranded Conformational
Pyruvate Dehydrogenase (Lipoamide) / deficiency*
Pyruvate Dehydrogenase (Lipoamide) / genetics*
Thiamine Pyrophosphate / metabolism*

Substances

Pyruvate Dehydrogenase (Lipoamide)
pyruvate dehydrogenase E1alpha subunit
Thiamine Pyrophosphate