Article
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
European journal of pediatrics - 1 May 1991
Superti-Furga A, Steinmann B, Duc G, Gitzelmann R
Abstract excerpt
Intrauterine growth retardation, microcephaly, and developmental delay in two first cousins lead to the recognition of phenylketonuria (PKU) in their mothers, 24- and 23 year-old sisters with blood phenylalanine concentrations of approx. 1.2 mmol/l who had never been treated and had no overt ment...
Topics
- Adult
- Arginine
- Base Sequence
- Female
- Glutamine
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Microcephaly
- Molecular Sequence Data
- Mothers
- Mutation
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias