L-carnitine in inborn errors of metabolism: what is the evidence?
A questionnaire was posted on the electronic mailing-list Metab-1 to determine current practice as regards the use of oral L-carnitine in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, propionic acidaemia (PA) and methylmalonic acidaemia (MMA). Thirty-one centres replied: L-carnitine was used routinely by 94% of respondents in PA and MMA but by only 36% in MCAD deficiency. A search was made for published papers on the use of L-carnitine in organic acidaemias and in MCAD deficiency. The quality of evidence to support the use of L-carnitine was graded according to the scale published by the Scottish Intercollegiate Guideline Network. No high-quality evidence was identified.
Walter
J H
JH
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester M27 4HA UK. john@walter.cmmc.nhs.co.uk
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002331:Carnitine / Q000627:therapeutic use*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000188:drug therapy*; D008764:Methylmalonic Acid / Q000097:blood*; D011422:Propionates / Q000097:blood*
D011422:Propionates; D008764:Methylmalonic Acid; D042964:Acyl-CoA Dehydrogenase; C029658:propionic acid; D002331:Carnitine