Maple Syrup Urine Disease

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Abstract
Maple syrup urine disease was described as a new syndrome by Menkes, Hurst, and Craig 1 in 1954. It is now known to be a metabolic defect characterized by an accumulation of the three keto acids corresponding to the partial breakdown of the three branched-chain amino acids, leucine, isoleucine, and valine, which occur in excess in urine, blood, and other body fluids.2 Most cases reported have been in infants with symptoms of central nervous system disease characterized by vomiting, poor feeding, and muscular hypertonicity, with a maple syrup odor to the urine. Mental retardation rapidly becomes evident. The purpose of this paper is to present two cases of maple syrup urine disease, one of an 18-month-old child, and the other of a one-month-old infant; to report the clinical impression of the response of the infant, who was given an artificial diet as used by Dent and Westall 3; and

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