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A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction

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Journal of Inherited Metabolic Disease

Abstract

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.

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Authors and Affiliations

  1. INSERM U530, Hôpital Necker, Paris

    C. Benelli & F. Fouque

  2. Laboratoire de biochimie Hôpital Pellegrin, Bordeaux

    I. Redonnet-Vernhet

  3. Laboratoire CNRS UPR 1524 Faculté Cochin, Paris

    C. Marsac & R. Dey

  4. EMI 99-29, INSERM, Université, Bordeaux 2, Bordeaux

    M. Malgat

  5. Département de Pédiatrie, Hôpital Pellegrin, Bordeaux, France

    D. Fontan

Authors
  1. C. Benelli
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  2. F. Fouque
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  3. I. Redonnet-Vernhet
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  4. M. Malgat
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  5. D. Fontan
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  6. C. Marsac
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  7. R. Dey
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Corresponding author

Correspondence to C. Marsac.

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Benelli, C., Fouque, F., Redonnet-Vernhet, I. et al. A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction. J Inherit Metab Dis 25, 325–327 (2002). https://doi.org/10.1023/A:1016570828778

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  • DOI: https://doi.org/10.1023/A:1016570828778

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