Carnitine supplementation for inborn errors of metabolism.
Abstract
Inborn errors of metabolism are genetic conditions which can lead to abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been proposed that in some instances carnitine supplementation should be provided to infants with a suspected metabolic disease as an interim measure, particularly whilst awaiting test results. Carnitine supplementation is used in the treatment of primary carnitine deficiency, and also where the deficiency is a secondary complication of several inborn errors of metabolism, such as organic acidaemias and fatty acid oxidation defects in children and adults. To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism. We searched the Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register, the Cochrane Central Register of Controlled Trials (The Cochrane Library 2007, Issue 4) and MEDLINE via Ovid (1950 to July week 4 2007), LILACS (15/05/2008) and Iranmedex (15/05/2008) and also the reference lists of retrieved articles.Date of most recent search of the Group's Inborn Errors of Metabolism Register: 27 October 2011. Randomised controlled trials and quasi-randomised controlled trials comp...Continue Reading
References
Secondary carnitine deficiency in handicapped patients receiving valproic acid and/or elemental diet
Impairment of lipid emulsion metabolism associated with carnitine insufficiency in premature infants
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