Studies in Maple Syrup Urine Disease

Abstract

Further studies have been undertaken of a baby with maple syrup urine disease. Of the various methods tried only diets low in the branched-chain amino acids were able to make normal the observed metabolic abnormalities. No clinical improvement was noted during our dietary experiments. They were, however, of short duration and were probably applied too late. The metabolism of the three keto acids derived from leucine, isoleucine and valine seemed to be grossly impaired presumably because they shared a common pathway at one point. A method is described of preparing a casein hydrolysate low in leucine, isoleucine and valine and potentially capable of adaptation to larger scale production.