Article
Phenylketonuria and its variants.
Annals of clinical and laboratory science - 1 Jan 2000
Kaufman S, Milstien S
Abstract excerpt
The hepatic phenylalanine hydroxylase system is complex, consisting of at least two enzymes and two non-protein cofactors. In classical phenylketonuria (PKU) the affect component has been shown to be the enzyme, phenylalanine hydroxylase. Recently, several variant forms of PKU have been identifie...
Topics
- Biopterins
- Brain
- Dopamine
- Fibroblasts
- Humans
- Intellectual Disability
- Mutation
- NADH, NADPH Oxidoreductases
- Phenylalanine Hydroxylase
- Phenylketonurias
- Pterins