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Further Observations on the Biochemical Lesion in Maple Syrup Urine Disease

Nature volume 214, page 276 (1967)Cite this article

Abstract

MAPLE syrup urine disease is an inherited disorder of amino-acid metabolism characterized clinically by irritability, rigidity, convulsive seizures and coma commonly manifest in the first weeks of life. Menkes1 found that patients afflicted with this neurological disorder excrete large amounts of branched-chain keto-acids in their urine, and Dancis et al.2 demonstrated a deficiency in branched-chain keto-acid decarboxylase in leucocytes. This enzyme defect results in the accumulation of branched-chain keto- and amino-acids in the plasma and tissues of these patients.

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References

  1. Menkes, J. H., Pediatrics, 23, 348 (1959).

    CAS  PubMed  Google Scholar 

  2. Dancis, J., Hutzler, J., and Levitz, M., Biochim. Biophys. Acta, 43, 342 (1960).

    Article  CAS  Google Scholar 

  3. Tashian, R. E., Metabolism, 10, 393 (1961).

    CAS  PubMed  Google Scholar 

  4. Howell, R. K., and Lee, M., Proc. Soc. Exp. Biol. and Med., 113, 660 (1963).

    Article  CAS  Google Scholar 

  5. Snyderman, S. E., Norton, P. M., Roitman, E., and Holt, jun., L. E., Pediatrics, 34, 454 (1964).

    CAS  PubMed  Google Scholar 

  6. Dreyfus, P. M., and Hauser, G., Microchimica Acta, II, 150 (1964).

  7. Dreyfus, P. M., and Hauser, G., Biochim. Biophys. Acta, 104, 78 (1965).

    Article  CAS  Google Scholar 

  8. Prensky, A. L., and Moser, H. W., J. Neurochem., 13, 863 (1966).

    Article  CAS  Google Scholar 

  9. Swaiman, K. F., and Milstein, J. M., J. Neurochem., 12, 981 (1965).

    Article  CAS  Google Scholar 

  10. Dancis, J., Hutzler, J., and Levitz, M., Biochim. Biophys. Acta, 78, 85 (1963).

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Joseph P. Kennedy, jun., Memorial Laboratories, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts

    PIERRE M. DREYFUS & ARTHUR L. PRENSKY

Authors
  1. PIERRE M. DREYFUS
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  2. ARTHUR L. PRENSKY
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DREYFUS, P., PRENSKY, A. Further Observations on the Biochemical Lesion in Maple Syrup Urine Disease. Nature 214, 276 (1967). https://doi.org/10.1038/214276a0

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