Author/Authors :
GOUDA, AMR National Research Centre - Department of Biochemical Genetics, Egypt , MAHMOUD, MONA National Research Centre - Department of Biochemical Genetics, Egypt , EL-KOTOURY, AHMAD I.S. National Research Centre - Department of Clinical Genetics, Egypt , EL-RUBY, MONA O. National Research Centre - Department of Clinical Genetics, Egypt , BASSUNI, RANDA I. National Research Centre - Department of Clinical Genetics, Egypt , ABDEL-RAOUF, RANDA K. Ain-Shams University - Institute of Post-graduate Childhood Studies, Egypt , EL-NEKHELY, IBRAHIM Ministry of Health Population, Egypt , MOHARAM, NADIA Ministry of Health Population, Egypt , FATEEN, EKRAM M. National Research Centre - Department of Biochemical Genetics, Egypt
Abstract :
7550 newborns were screened by the enzymatic colori-metric method for the detection of PKU and Galactosemia. 6851 samples were collected from the central laboratories of the Ministry of Health and Population (Giza Governorate), and 699 samples were collected from maternal and child healthcare centers. 44 cases (0.58%) showed elevated pheny¬lalanine level (higher than 3 mg/dl) and 65 cases (0.86%) showed elevated total galactose level (higher than 5mg/dl). Every newborn with elevated total metabolite was asked for another sample to be reevaluated for accurate and proper diagnosis to prove or exclude the disorder. Only 10 cases with elevated phenylalanine and 24 cases with elevated galactose level responded and were retested. Only one case proved to have phenylketonuria (0.01%).In conclusion: A mass screening program must be con-structed for all newborns in Egypt for the detection of phe-nylketonuria and galactosemia. Early detection of these treatable disorders will prevent their irreversible damages. The high positive consanguinity among Egyptians leads to high incidence of these autosomal recessive disorders.
