PEDIATRICS Vol. 48 No. 5 November 1971, pp. 795-801
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BIOCHEMICAL STUDIES ON A VARIANT OF BRANCHED CHAIN KETOACIDURIA IN A 19-YEAR-OLD FEMALE

Milton H. Fischer Ph.D.1 and Theo Gerritsen D.Sc.1

1 Biochemical Research Laboratory, Central Wisconsin Colony, and the Joseph P. Kennedy, Jr. Laboratories, Department of Pediatrics, University of Wisconsin Medical Center, Madison, Wisconsin

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 agr-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 agr-keto acids could be increased by feeding a diet high in protein. Branched chain agr- 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.

Submitted on February 16, 1971
Accepted on May 7, 1971




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