Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
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Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM, Bachmann C, Elsas LJ 2nd, Pollitt RJ, Rhead WJ, Roe CR
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Biochem Biophys Res Commun. 1990 Aug 31;171(1):498-505.
- PubMed ID
- 2393404 [ View in PubMed]
- Abstract
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man. We have studied fibroblast cultures obtained from three patients with MCAD deficiency by sequencing the entire coding region of MCAD mRNA. A single A to G nucleotide replacement which resulted in lysine329-to-glutamic acid329 substitution of the MCAD protein was identified in all cultures. Furthermore, this point mutation was present in 91% (31 of 34) of mutant MCAD alleles, indicating that the majority of cases with MCAD deficiency are caused by this type of mutation.