Article
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.
Clinical genetics - 1 Oct 1991
Curtis D, Blakemore A I, Engel P C, Macgregor D, Besley G, Kolvraa S, Gregersen N
Abstract excerpt
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...
Topics
- Acyl-CoA Dehydrogenases
- Adolescent
- Follow-Up Studies
- Genetic Carrier Screening
- Homozygote
- Humans
- Incidence
- Mutation
- Polymerase Chain Reaction
- United Kingdom