Diet Therapy for MSUD (Maple Syrup Urine Disease) and Organic Acidurias

摘要

The 1976 document provides guidelines on dietary management of children with certain inborn errors of amino acid metabolism, based on knowledge up to that time. Three separate sections discuss treatment of branched-chain ketoacidemia (maple syrup urine disease), disorders of propionate metabolism, and therapy of urea cycle disorders. Two additional sections discuss computer programs and data bases for clinical nutrition information and computation, and the problem of financing amino acid diets. The objective of the document is to provide information available as of 1976 to genetic center directors on the nutritional and clinical management of some of the rarest inborn errors of metabolism.