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.
Similar content being viewed by others
Article PDF
References
Menkes, J. H., Pediatrics, 23, 348 (1959).
Dancis, J., Hutzler, J., and Levitz, M., Biochim. Biophys. Acta, 43, 342 (1960).
Tashian, R. E., Metabolism, 10, 393 (1961).
Howell, R. K., and Lee, M., Proc. Soc. Exp. Biol. and Med., 113, 660 (1963).
Snyderman, S. E., Norton, P. M., Roitman, E., and Holt, jun., L. E., Pediatrics, 34, 454 (1964).
Dreyfus, P. M., and Hauser, G., Microchimica Acta, II, 150 (1964).
Dreyfus, P. M., and Hauser, G., Biochim. Biophys. Acta, 104, 78 (1965).
Prensky, A. L., and Moser, H. W., J. Neurochem., 13, 863 (1966).
Swaiman, K. F., and Milstein, J. M., J. Neurochem., 12, 981 (1965).
Dancis, J., Hutzler, J., and Levitz, M., Biochim. Biophys. Acta, 78, 85 (1963).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Issue Date:
DOI: https://doi.org/10.1038/214276a0
This article is cited by
-
Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Orphanet Journal of Rare Diseases (2013)
-
Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids
European Journal of Pediatrics (1980)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.