Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
OBJECTIVE
The aim of this study is to assess the prevalence of six common mutations in the Mediterranean basin and Turkey among a large group of Egyptian PKU cases


BACKGROUND
Phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism that is caused by deficiency of hepatic phenylalanine hydroxylase (PAH). This deficiency is attributed to more than 528 mutations in the PAH gene.


METHODS
Ninety unrelated patients with PKU (180 alleles) were screened for six mutations (IVS10-11G>A, R261Q, R252W, Y277D, E221G and G272S) using polymerase chain reaction-restriction fragment length polymorphism.


RESULTS
The IVS10-11G>A mutation was found in thirty alleles (17%), the R261Q in twelve (7%) and R252W in three (1.6%), while Y277D, E221G and G272S were not found in this patient group.


CONCLUSIONS
Screening for six Mediterranean mutations identified a heterogeneous pattern among Egyptian PKU patients with a high frequency of IVS10-11 G>A (17%) (Tab. 2, Ref. 31). Full Text (Free, PDF) www.bmj.sk.
Effat
L K
LK
Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Center, Cairo, Egypt. lailaeffat@yahoo.com
Essawi
M L
ML
Abd El Hamid
M S
MS
Hawari
N
N
Gad
Y Z
YZ
D004534:Egypt; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D019083:Mediterranean Region; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*
D010651:Phenylalanine Hydroxylase