maple syrup urine diseasenoun
Medical Definition of maple syrup urine disease
Note: Maple syrup urine disease is caused by a deficiency of the enzyme decarboxylase, which leads to high concentrations of the amino acids valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid. The disorder is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.
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