Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Millington, DS; Roe, CR; Maltby, DA; Inoue, F

Published Date

  • January 1987

Published In

Volume / Issue

  • 110 / 1

Start / End Page

  • 56 - 60

PubMed ID

  • 3794887

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(87)80288-3


  • eng

Conference Location

  • United States