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. METHODS: 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. RESULTS: 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) nmol/g wet weight, respectively. L-Carnitine supplementation increased muscle and plasma carnitine levels to a low-normal range, 25.5 (SD 10.9) μmol/L and 1,827 (SD 523) nmol/g wet weight, p < 0.01, respectively. Seven of the thirteen 3-MCCd subjects suffered from self-reported fatigue with some alleviation after L-carnitine supplementation. CONCLUSION: 3-MCCd is common in the Faroe Islands. Some symptomatic 3-MCCd patients may benefit biochemically and clinically from L-carnitine supplementation, a more general recommendation cannot be given.
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. METHODS: 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. RESULTS: 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) nmol/g wet weight, respectively. L-Carnitine supplementation increased muscle and plasma carnitine levels to a low-normal range, 25.5 (SD 10.9) μmol/L and 1,827 (SD 523) nmol/g wet weight, p < 0.01, respectively. Seven of the thirteen 3-MCCd subjects suffered from self-reported fatigue with some alleviation after L-carnitine supplementation. CONCLUSION: 3-MCCd is common in the Faroe Islands. Some symptomatic 3-MCCd patients may benefit biochemically and clinically from L-carnitine supplementation, a more general recommendation cannot be given.
Authors: M E Gallardo; L R Desviat; J M Rodríguez; J Esparza-Gordillo; C Pérez-Cerdá; B Pérez; P Rodríguez-Pombo; O Criado; R Sanz; D H Morton; K M Gibson; T P Le; A Ribes; S R de Córdoba; M Ugarte; M A Peñalva Journal: Am J Hum Genet Date: 2001-01-17 Impact factor: 11.025
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Authors: T Baykal; G Huner Gokcay; Z Ince; M F Dantas; B Fowler; M R Baumgartner; F Demir; G Can; M Demirkol Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982
Authors: D D Koeberl; D S Millington; W E Smith; S D Weavil; J Muenzer; S E McCandless; P S Kishnani; M T McDonald; S Chaing; A Boney; E Moore; D M Frazier Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982