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
Language
- eng
Conference Location
- United States