Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-C]phenylalanine
نویسندگان
چکیده
Roya Riazi, Mahroukh Rafii, Joe T. R. Clarke, Linda J. Wykes, Ronald O. Ball, and Paul B. Pencharz Departments of Nutritional Sciences and Paediatrics, University of Toronto, Toronto M5S 3E2; The Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8; School of Dietetics & Human Nutrition, McGill University, Ste-Anne-de-Bellevue, Quebec H9X 3V9; and Department of Agricultural, Food and Nutritional Sciences, University of Alberta, Edmonton, Alberta T6G 2P5, Canada
منابع مشابه
Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defects in the mitochondrial multienzyme complex branched-chain alpha-keto acid dehydrogenase (BCKD; EC 1.2.4.4), responsible for the oxidative decarboxylation of the branched-chain ketoacids (BCKA) derived from the branched-chain amino acids (BCAA) leucine, valine, and isoleucine. Deficiency of the enzyme results in ...
متن کاملA Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
متن کاملMaple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report
Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex (BCKDC) deficiency. Mutations in 3 genes can lead to abnormal metabolism and accumulation of leucine, isoleucine, valine and corresponding keto-acids. MSUD affects 1 in 185,000 infants globally. Seizure is a common presentation among neonat...
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Protein-energy malnutrition is prevalent in children with chronic cholestatic liver disease. Supplementation of branched-chain amino acids (BCAA) in infants and children with chronic liver disease has been associated with significant improvement in growth and nitrogen balance, suggesting that BCAA requirements are increased in chronic liver disease. The goal of the present study was to determin...
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1. Using the forearm balance method, together with systemic infusions of L-[ring-2,6-3H]phenylalanine and L-[1-14C]leucine, we examined the effects of infused branched-chain amino acids on whole-body and skeletal muscle amino acid kinetics in 10 postabsorptive normal subjects; 10 control subjects received only saline. 2. Infusion of branched-chain amino acids caused a four-fold rise in arterial...
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تاریخ انتشار 2004