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Research Article Free access | 10.1172/JCI111657

L-carnitine therapy in isovaleric acidemia.

C R Roe, D S Millington, D A Maltby, S G Kahler, and T P Bohan

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Published December 1, 1984 - More info

Published in Volume 74, Issue 6 on December 1, 1984
J Clin Invest. 1984;74(6):2290–2295. https://doi.org/10.1172/JCI111657.
© 1984 The American Society for Clinical Investigation
Published December 1, 1984 - Version history
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Abstract

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.

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