Abstract
Although serum levels of BCAA are elevated in MSUD at the time of diagnosis, data on serum levels of amino acids prior to development of symptoms are very limited. We have measured serum levels of BCAA during the first 4 days of life in 7 neonates from 3 families with affected offsprings. Three infants had MSUD and 4 were normal. All infants received 5% glucose in water for the first 12-24 hours and then were started on a formula devoid of BCAA. Valine and isoleucine were mildly elevated in cord sera of all 3 affected infants but leucine levels overlapped with those of normal siblings. Serumlevels of all BCAA increased as early as 4 hours after birth while these levels decreased in normal infants during the same period. Isoleucine levels decreased below normal in affected infants at 2nd and 4th days of life while other BCAA continued to rise. These data indicate that diagnosis of MSUD can be made within a few hours of life even before feeding. (Supported by GCRC grant n. RR-75).
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Rezvani, I., Digeorge, A., Garibaldi, L. et al. Serum concentrations of branched chained amino acids (BCAA) in neonates with classic maple syrup urine disease (MSUD) in the first 4 days of life. Pediatr Res 14, 1423 (1980). https://doi.org/10.1203/00006450-198012000-00087
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DOI: https://doi.org/10.1203/00006450-198012000-00087