The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
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We have shown that all of seven unrelated patients with defective palmitoyl-CoA dehydrogenation have mutations in VLCAD, indicating that they suffer from VLCAD deficiency.
Our study illustrations that there is a large mutational heterogeneity in VLCAD deficiency. It is not at present possible to judge whether or to what extent this large mutational heterogeneity may explain the varying clinical picture observed in this disease.
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- Aoyama T, Uchida Y, Kelley RI, et al (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.Biochem Biophys Res Commun 191: 1369–1372.Google Scholar
- Aoyama T, Souri M, Ushikubo S, et al (1995) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.J Clin Invest 95: 2465–2473.Google Scholar
- Beinert H (1963) In Boyer PD, Lardy H, Myrback K, eds.The Enzymes, vol. 7. New York: Academic Press, 447–476.Google Scholar
- Bertrand C, Largillière C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very-long-chain acyl-CoA dehydrogenase deficiency: identification of new inborn error of mitochondrial fatty acid oxidation in fibroblasts.Biochim Biophys Acta 1180: 327–329.Google Scholar
- Gregersen N, Andresen BS, Bross P, et al (1991) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant protein inE. coli.Hum Genet 86: 545–551.Google Scholar
- Kim J-P, Wang M, Paschke R (1993) Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.Proc Natl Acad Sci USA 90: 7523–7527.Google Scholar
- Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS (1991) Hypoglycemia, hypotonia and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.Pediatrics 87: 328–333.Google Scholar