Premium
Heterogeneity for mutations in medium chain acyl‐CoA dehydrogenase deficiency in the UK population
Author(s) -
Curtis Diana,
Blakemore Alexandra I. F.,
Engel Paul C.,
Macgregor Donald,
Besley Guy,
Kolvraa Steen,
Gregersen Niels
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03097.x
Subject(s) - mutation , genetics , allele , heterozygote advantage , acyl coa dehydrogenase , compound heterozygosity , incidence (geometry) , population , biology , gene , endocrinology , medicine , dehydrogenase , enzyme , biochemistry , environmental health , physics , optics
MCAD is the commonest inherited disorder of fatty acid oxidation. We have sought for and studied 21 affected children from 18 families within the UK. In 14 families the children are homozygous for the G985 mutation. In three families the children are compound heterozygotes for G985 and thus carry another and unknown mutation. In one family the child does not carry the G985 mutation on either allele. The carrier incidence of the G985 mutation is 1 in 68, which suggests that the natural history of MCAD deficiency deserves further study.