Article
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.
Journal of inherited metabolic disease - 1 Jan 1994
Guldberg P, Levy H L, Koch R, Berlin C M, Francois B, Henriksen K F, Güttler F
Abstract excerpt
Neonatal hyperphenylalaninaemia caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) represents a wide spectrum of metabolic phenotypes, ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). The marked interindividual heterogeneity is due to the ex...
Topics
- Amino Acid Metabolism, Inborn Errors
- DNA Mutational Analysis
- Genotype
- Humans
- Mutation
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias