Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia |
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| Authors: | D S Millington C R Roe D A Maltby F Inoue |
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| Affiliation: | 1. Department of Neurology, School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA;2. Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA;3. Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY, USA;4. The Program for the Study of Neurodevelopment in Rare Disorders, Children’s Hospital Pittsburgh of UPMC, Pittsburgh, PA, USA. |
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| Abstract: | A patient with isovaleryl-coenzyme A dehydrogenase deficiency was given a synthetic oral feed containing L-(2H3-methyl)-leucine of high isotopic purity as the only dietary precursor to the defective enzyme. Metabolites derived from this source were readily distinguished from their unlabeled endogenous counterparts by mass spectrometry. During 6 consecutive days of labeled leucine ingestion, the average daily excretion of labeled metabolites was only about 10% of the total derived from leucine. It is suggested that therapy should be directed toward the control of endogenous protein turnover rather than the restriction of dietary protein intake. |
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