In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

C Zekanowsk; B Perez; L R Desviat; W Wiszniewski; M Ugarte

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Acta Biochim Pol. 2000;47(2):365-9.

Authors

C Zekanowsk¹, B Perez, L R Desviat, W Wiszniewski, M Ugarte

Affiliation

¹ Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland. [email protected]

PMID: 11051201

Abstract

Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

Publication types

Case Reports

MeSH terms

Adult
Amino Acid Substitution
Animals
COS Cells
Child
Child, Preschool
Chlorocebus aethiops
Female
Genotype
Humans
Male
Mutagenesis, Site-Directed
Mutation, Missense
Phenotype
Phenylalanine / blood
Phenylalanine Hydroxylase / chemistry
Phenylalanine Hydroxylase / genetics*
Phenylalanine Hydroxylase / metabolism
Phenylketonurias / enzymology
Phenylketonurias / genetics*
Recombinant Proteins / metabolism

Substances

Recombinant Proteins
Phenylalanine
Phenylalanine Hydroxylase