A case of maple sugar urine disease.

Maple sugar urine disease is an inborn error of metabolism, in which the symptoms such as feeding difficulty, weak crying or irregular, jerky respirations occur soon after birth, consequently growth failure is brought about and finally the death comes mostly due to a complication of bronchopneumonia within several weeks or months of life.1) Outstanding features of the disease are known to be a peculiar odor to urine resembling that of maple sugar and to be an excessive excretion of the three branched chain amino acids; leucine, isoleucine and valine in urine.1) Since the first description by Menkes et al.2) in 1954, a few cases have been reported in England and U.S.A.3-6) However, no report has appeared in Japan. In this paper, the first case of maple sugar urine disease in Japan will be reported.