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Human defects of the pyruvate dehydrogenase complex

  • Chapter
Alpha-Keto Acid Dehydrogenase Complexes

Part of the book series: MCBU Molecular and Cell Biology Updates ((MCBU))

Abstract

Deficiency of the pyruvate dehydrogenase complex (PDC), a critical enzyme of energy metabolism, would appear incompatible with survival, particularly in the intrauterine environment where energy production depends primarily on glucose oxidation. The now well-established occurrence of these defects presents a challenge to provide physiological explanations of what factors determine survival and adaptation of affected individuals. Unfortunately, for most affected individuals, deleterious effects on the central nervous system are severe. Biochemical and genetic explanations for why this group of disorders is so heterogeneous are beginning to emerge. Several reviews concerning clinical, biochemical, and genetic features of PDC deficiency and related disorders have been published recently (Robinson, 1995; Kerr and Zinn, 1995; Dahl, 1995; Patel and Harris, 1995).

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Authors and Affiliations

  1. Departments of Pediatrics, Biochemistry, School of Medicine, Case Western Reserve, University, NY, 14214, USA

    D. S. Kerr & I. D. Wexler

  2. Departments of Nutrition, School of Medicine, Case Western Reserve, University, NY, 14214, USA

    A. Tripatara

  3. Department of Biochemistry, State University of New York at Buffalo, NY, 14214, USA

    M. S. Patel

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  1. D. S. Kerr
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  2. I. D. Wexler
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  3. A. Tripatara
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  4. M. S. Patel
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Editors and Affiliations

  1. Department of Biochemistry School of Medicine and Biomedical Sciences, State University of New York, 140 Farber Hall 3435 Main Street, 14214, Buffalo, New York, USA

    Mulchand S. Patel

  2. Department of Biochemistry, Kansas State University, 104 Willard Hall, 66506, Manhattan, KS, USA

    Thomas E. Roche

  3. Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, 635 Barnhill Drive, 46202, Indianapolis, IN, USA

    Robert A. Harris

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Kerr, D.S., Wexler, I.D., Tripatara, A., Patel, M.S. (1996). Human defects of the pyruvate dehydrogenase complex. In: Patel, M.S., Roche, T.E., Harris, R.A. (eds) Alpha-Keto Acid Dehydrogenase Complexes. MCBU Molecular and Cell Biology Updates. Birkhäuser Basel. https://doi.org/10.1007/978-3-0348-8981-0_18

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  • DOI: https://doi.org/10.1007/978-3-0348-8981-0_18

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