Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy.
1H-NMR spectroscopy has been used to study metabolic perturbations in patients with disorders of propionyl-CoA metabolism during the administration of oral and intravenous L-carnitine. The administration of L-carnitine either in the form of a challenge or as a therapeutic measure resulted in an increased excretion of propionylcarnitine, consistent with the removal of accumulated intramitochondrial propionyl-CoA esters. Additionally, during the therapeutic administration of L-carnitine excretion of acetylcarnitine occurred, coincident with an improvement in clinical condition and confirming the intracellular propionyl-CoA depletion. An additional benefit from the formation of acylcarnitines may be an accompanying intracellular alkalinisation.
Davies
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SE
Medical Unit (Cellular Mechanisms Research Group), London Hospital Medical College, Whitechapel, UK.
Iles
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RA
Stacey
T E
TE
de Sousa
C
C
Chalmers
R A
RA
D000214:Acyl Coenzyme A / Q000378:metabolism*; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000378:metabolism; D002331:Carnitine / Q000627:therapeutic use* / Q000652:urine; D002675:Child, Preschool; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007700:Kinetics; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine; D011422:Propionates / Q000097:blood
D000214:Acyl Coenzyme A; D011422:Propionates; C009061:propionyl-coenzyme A; D008764:Methylmalonic Acid; C029658:propionic acid; D002331:Carnitine