Skip to main content

L-carnitine therapy in isovaleric acidemia.

Publication ,  Journal Article
Roe, CR; Millington, DS; Maltby, DA; Kahler, SG; Bohan, TP
Published in: J Clin Invest
December 1984

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.

Duke Scholars

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

December 1984

Volume

74

Issue

6

Start / End Page

2290 / 2295

Location

United States

Related Subject Headings

  • Valerates
  • Pentanoic Acids
  • Oxidoreductases Acting on CH-CH Group Donors
  • Oxidoreductases
  • Mass Spectrometry
  • Male
  • Isovaleryl-CoA Dehydrogenase
  • Immunology
  • Humans
  • Hemiterpenes
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Roe, C. R., Millington, D. S., Maltby, D. A., Kahler, S. G., & Bohan, T. P. (1984). L-carnitine therapy in isovaleric acidemia. J Clin Invest, 74(6), 2290–2295. https://doi.org/10.1172/JCI111657
Roe, C. R., D. S. Millington, D. A. Maltby, S. G. Kahler, and T. P. Bohan. “L-carnitine therapy in isovaleric acidemia.J Clin Invest 74, no. 6 (December 1984): 2290–95. https://doi.org/10.1172/JCI111657.
Roe CR, Millington DS, Maltby DA, Kahler SG, Bohan TP. L-carnitine therapy in isovaleric acidemia. J Clin Invest. 1984 Dec;74(6):2290–5.
Roe, C. R., et al. “L-carnitine therapy in isovaleric acidemia.J Clin Invest, vol. 74, no. 6, Dec. 1984, pp. 2290–95. Pubmed, doi:10.1172/JCI111657.
Roe CR, Millington DS, Maltby DA, Kahler SG, Bohan TP. L-carnitine therapy in isovaleric acidemia. J Clin Invest. 1984 Dec;74(6):2290–2295.

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

December 1984

Volume

74

Issue

6

Start / End Page

2290 / 2295

Location

United States

Related Subject Headings

  • Valerates
  • Pentanoic Acids
  • Oxidoreductases Acting on CH-CH Group Donors
  • Oxidoreductases
  • Mass Spectrometry
  • Male
  • Isovaleryl-CoA Dehydrogenase
  • Immunology
  • Humans
  • Hemiterpenes