Article
Genetic analysis of treated and untreated phenylketonuria in one family.
Journal of medical genetics - 1 Sept 1990
Tyfield L A, Meredith A L, Osborn M J, Primavesi R, Chambers T L, Holton J B, Harper P S
Abstract excerpt
We describe a family in which four subjects in two generations have a disorder of phenylalanine metabolism. Two first cousins had different biochemical presentations in the neonatal period. The older child was thought to have a more severe form of phenylketonuria (PKU), and the younger child a mi...
Topics
- Adolescent
- Aged
- DNA Mutational Analysis
- Female
- Haplotypes
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase