Article
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
European journal of pediatrics - 1 Jul 1996
Güttler F, Guldberg P
Abstract excerpt
The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerat...
Topics
- Amino Acid Metabolism, Inborn Errors
- Codon
- Cognition Disorders
- Enzyme Activation
- Genotype
- Homeostasis
- Humans
- Mutation
- Phenotype
- Phenylalanine Hydroxylase
- Phenylketonurias