Dictionary of Human Evolution and Biology

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Maple Syrup Urine Disease

Heritable condition characterized by syrupy-smelling urine, lethargy, breathing and swallowing problems, mental impairment, coma, and inevitably, death. A genetic disease of faulty amino acid metabolism. The defective protein is branched chain keto-acid dehydrogenase, an autosomal recessive, and it results in an inability to metabolize leucine, isoleucine and valine. Aka branched chain ketoaciduria.

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From "Dictionary of Nursing and Individual Health Care"