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Prevalence of the 985A»G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden

Prevalence of the 985A»G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden

Abstract

Scand J Clin Lab Invest 1999; 59: 289 ± 292 Prevalence of the 985AwG mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden Ê È A . J O H A N S S O N , C . GU T H E N B E R G , H . A H L M A N , U . V O N DO BEL N & L. HAGENFELDT Centre for Inherited Metabolic Diseases, Huddinge University Hospital, Huddinge, Sweden Ê Johansson A, Guthenberg C, Ahlman H, von Dobeln U, Hagenfeldt L. È Prevalence of the 985AwG mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden. Scand J Clin Lab Invest 1999; 59: 289±292. The prevalence of the 985AwG mutation in the medium-chain acyl-CoA dehydrogenase gene was determined in the Swedish population. A heterozygote frequency of 1 : 127 was observed. Morbidity data indicate that most of the homozygotes with this mutation are not diagnosed and probably remain asymptomatic. Key words: Fatty acid oxidation L. Hagenfeldt, CMMS, Huddinge University Hospital, S-141 86 Huddinge, Sweden Medium-chain acyl-CoA dehydrogenase (MCAD, EC 1.3.99.3) is one of the enzymes involved in the mitochondrial b-oxidation of fatty acids. MCAD de®ciency (McKusick 201450)
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