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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