Is l-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

Background: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCd) is an autosomal recessive disorder in the catabolism of leucine. In the present study, we investigated the current and prior medical condition of patients with 3-MCCd in the Faroe Islands and their carnitine levels in blood, urine and...

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Bibliographic Details
Main Authors: Thomsen, Jákup Andreas, Lund, Allan Meldgaard, Olesen, Jess Have, Mohr, Magni, Rasmussen, Jan
Format: Text
Language:English
Published: Springer Berlin Heidelberg 2015
Subjects:
Article
Faroe Islands
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470948/
http://www.ncbi.nlm.nih.gov/pubmed/25732994
https://doi.org/10.1007/8904_2014_393
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Summary:Background: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCd) is an autosomal recessive disorder in the catabolism of leucine. In the present study, we investigated the current and prior medical condition of patients with 3-MCCd in the Faroe Islands and their carnitine levels in blood, urine and muscle tissue with and without l-carnitine supplementation to evaluate the current treatment strategy of not recommending l-carnitine supplementation to Faroese 3-MCCd patients.

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