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A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction
Author(s) -
Benelli C.,
Fouque F.,
RedonnetVernhet I.,
Malgat M.,
Fontan D.,
Marsac C.,
Dey R.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1016570828778
Subject(s) - thiamine pyrophosphate , pyruvate dehydrogenase complex , thiamine , mutation , protein subunit , pyruvate dehydrogenase phosphatase , gene , g alpha subunit , oxoglutarate dehydrogenase complex , branched chain alpha keto acid dehydrogenase complex , pyrophosphate , pyruvate dehydrogenase kinase , biochemistry , dehydrogenase , alpha (finance) , microbiology and biotechnology , biology , chemistry , enzyme , medicine , cofactor , construct validity , nursing , patient satisfaction
We identified a new Y243S mutation in the X‐linked E1 α‐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.