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

JIMD Reports
J A ThomsenJan Rasmussen

Abstract

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. Blood and urine samples and muscle biopsies were collected from patients at inclusion and at 3 months. Eight patients received L-carnitine supplementation when recruited; five did not. Included patients who received supplementation were asked to stop L-carnitine, the others were asked to initiate L-carnitine supplementation during the study. Symptoms were determined by review of hospital medical records and questionnaires answered at baseline and after the intervention. The prevalence of 3-MCCd in the Faroe Islands was 1:2,400, the highest reported worldwide. All patients were homozygous for the MCCC1 mutation c.1526delG. When not administered L-carnitine, the 3-MCCd patients (n = 13) had low plasma and muscle free carnitine levels, 6.9 (SD 1.4) μmol/L and 785 (SD 301) n...Continue Reading

Citations

May 17, 2018·Genetics and Molecular Biology·Carla CozzolinoMargherita Ruoppolo
Nov 15, 2015·Journal of Inherited Metabolic Disease·Jonathan RipsRonen Spiegel

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