Practical methods to estimate whole body leucine oxidation in maple syrup urine disease


Play all audios:

ABSTRACT ABSTRACT: We report the comparison of noninvasive methods to estimate whole body leucine oxidation in patients who have maple syrup urine disease. We used both an i.v. and an oral


bolus of L-[1-13C]leucine and quantitated 13CO2 in expired air. Both methods differentiated patients with maple syrup urine disease from heterozygous and control subjects. Eight patients,


whose disease differed in clinical severity, were selected for study and had a range of impaired values for whole body leucine oxidation. Six h after an i.v. bolus dose of


L-[1-13C]-L-leucine, 13CO2 recoveries ranged from 0.8 to 19.7%. Three of the eight patients had significant increases in 13CO2 production after supraphysiologic thiamine therapy. After the


oral dose of L-[1-13C]leucine, homozygous affected children produced less 13CO2 than normal, age-matched, childhood controls. In addition, the oxidation of orally administered L-[1-13C]


leucine was reduced significantly in adult heterozygotes compared with adult controls. The proportion of whole body leucine oxidation by affected children was comparatively greater than that


by their cultured cells, but cellular oxidation correlated significantly with whole body oxidation of leucine among affected patients. We conclude that these simplified analyses of whole


body leucine oxidation define the degree of impaired branched-chain α-ketoacid dehydrogenase activity in patients with differing types of maple syrup urine disease and distinguish the


subpopulation who might benefit from thiamine supplementation. SIMILAR CONTENT BEING VIEWED BY OTHERS CHARACTERIZATION AND TREATMENT MONITORING OF UREAGENESIS DISORDERS USING STABLE ISOTOPES


Article Open access 06 May 2025 ELEVATED LEVELS OF URINE ISOCITRATE, HYDROXYMETHYLGLUTARATE, AND FORMIMINOGLUTAMATE ARE ASSOCIATED WITH ARTERIAL STIFFNESS IN KOREAN ADULTS Article Open


access 13 May 2021 TRACING METABOLIC FLUX TO ASSESS OPTIMAL DIETARY PROTEIN AND AMINO ACID CONSUMPTION Article Open access 08 September 2022 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND


AFFILIATIONS * Department of Pediatrics, Division of Medical Genetics, Emory University, Atlanta, 30322, Georgia Louis J Elsas & Nicole P Ellerine * Department of Pediatrics, USDA/ARS


Children's Nutrition Research Center, Baylor College of Medicine, Houston, 77030, Texas Peter D Klein Authors * Louis J Elsas View author publications You can also search for this


author inPubMed Google Scholar * Nicole P Ellerine View author publications You can also search for this author inPubMed Google Scholar * Peter D Klein View author publications You can also


search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Elsas, L., Ellerine, N. & Klein, P. Practical Methods


to Estimate Whole Body Leucine Oxidation in Maple Syrup Urine Disease. _Pediatr Res_ 33, 445–450 (1993). https://doi.org/10.1203/00006450-199305000-00005 Download citation * Received: 01


September 1992 * Accepted: 12 January 1993 * Issue Date: 01 May 1993 * DOI: https://doi.org/10.1203/00006450-199305000-00005 SHARE THIS ARTICLE Anyone you share the following link with will


be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt


content-sharing initiative