Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

• Published in: Biochemical and biophysical research communications Vol. 171; no. 1; pp. 498 - 505
• Main Authors: Matsubara, Yoichi, Narisawa, Kuniaki, Miyabayashi, Shigeaki, Tada, Keiya, Coates, Paul M., Bachmann, Claude, Elsas, Louis J., Pollitt, Rodney J., Rhead, William J., Roe, Charles R.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 31.08.1990
• Subjects: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases - deficiency; Acyl-CoA Dehydrogenases - genetics; Base Sequence; Genes; Humans; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Oligonucleotides; Pedigree; point mutation; Polymerase Chain Reaction; RNA, Messenger - genetics; MCAD; PCR
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1016/0006-291X(90)91421-N

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 lysine 329-to-glutamic acid 329 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.