Article
The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.
Biochemical and molecular medicine - 1 Apr 1997
Koch R, Fishler K, Azen C, Guldberg P, Güttler F
Abstract excerpt
Seventy-two adults with phenylketonuria were evaluated to investigate the genotypic relationship to phenotype. Patient data were collected by chart review and medical follow-up as well as current psychological evaluation. Nineteen diagnosed neonatally had remained on a phenylalanine-restricted diet all their lives, whereas 34 who were also diagnosed on newborn screening had discontinued dietary restriction during...
Topics
- Adult
- Age Factors
- Diet
- Genotype
- Humans
- Intelligence
- Mutation
- Phenotype
- Phenylalanine Hydroxylase
- Phenylketonurias