Maple Syrup Urine Disease

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