Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
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.
Matsubara
Y
Y
Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Narisawa
K
K
Miyabayashi
S
S
Tada
K
K
Coates
P M
PM
Bachmann
C
C
Elsas
L J
LJ
Pollitt
R J
RJ
Rhead
W J
WJ
Roe
C R
CR
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D009841:Oligonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics
D015345:Oligonucleotide Probes; D009841:Oligonucleotides; D012333:RNA, Messenger; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase