BIOCHEMICAL STUDIES ON A VARIANT OF BRANCHED CHAIN KETOACIDURIA IN A 19-YEAR-OLD FEMALE

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Abstract
Branched chain ketoaciduria (BCKA) or maple syrup urine disease is a rare, serious, and usually early fatal disease found in newborn infants. The finding of 233 mg of branched chain α-keto acids in the urine of a young adult was therefore surprising. The patient was physically in good health and had a full scale IQ of 76. The excretion of branched chain amino acids and branched chain α-keto acids could be increased by feeding a diet high in protein. Branched chain α- keto acid dehydrogenase activities in the peripheral leukocytes and in skin fibroblasts were found to be decreased to only a very small fraction of control values and were comparable to the levels found in a case of classic BCKA.

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