L-carnitine therapy in isovaleric acidemia.

Journal Article (Journal Article)

Isovaleric acidemia, resulting from isovaleryl-coenzyme A dehydrogenase deficiency, is associated with marked reduction of free carnitine in both plasma and urine. Fast atom bombardment-mass spectrometry, hydrolysis, and gas chromatography/mass spectrometry have unequivocally identified the existence of isovalerylcarnitine, a new metabolite specific for this disorder. Administration of equimolar amounts of glycine or L-carnitine separately with leucine demonstrated that isovaleryl-coenzyme A is removed by supplemental L-carnitine in the form of isovalerylcarnitine as effectively as it is by glycine, in the form of isovalerylglycine. When L-carnitine is given alone, excretion of isovalerylglycine decreases in preference to enhanced excretion of isovalerylcarnitine and hippurate. Treatment with L-carnitine alone has proven effective in preventing further hospitalizations in a patient with this genetic disorder.

Full Text

Duke Authors

Cited Authors

  • Roe, CR; Millington, DS; Maltby, DA; Kahler, SG; Bohan, TP

Published Date

  • December 1984

Published In

Volume / Issue

  • 74 / 6

Start / End Page

  • 2290 - 2295

PubMed ID

  • 6549017

Pubmed Central ID

  • PMC425423

International Standard Serial Number (ISSN)

  • 0021-9738

Digital Object Identifier (DOI)

  • 10.1172/JCI111657


  • eng

Conference Location

  • United States