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Summary 1. A patient (N.R.) with Intermittent Branched Chain Ketonuria (Intermittent Maple Syrup Urine Disease) is described. It is the first case of this very rare abnormality to be documented in Canada. 2. Laboratory diagnosis was initially made on the basis of a maple syrup-like odor to the urine, along with a strongly positive ketone test and a negative reducing substance test. The diagnosis was confirmed by elevated urinary and plasma levels of leucine, isoleucine, alloisoleucine and valine, and by the demonstration of reduced branched-chain oxidative decarboxylase activity in cultured fibroblasts. Urinary keto acids were also elevated. 3. Dietary treatment of the patient (N.R.) consisted of replacement of oral feedings by I.V. fluids for 36 hours, then oral protein free fluids for a further 36 hours after which a gelatin based formula was given. The gelatin based formula was gradually replaced by Enfalac and was supplemented with regular commercial fruit, meat, and vegetable purees. In retrospect the dietary treatment was probably more rigorous than necessary. |
