Screening for phenylketonuria and galactosemia among Egyptian newborns in Menoufiya governorate

Abstract

Aim of the Work: Was to study the prevalence of phenylketonuria and galactosemia in Menoufiya Governorate newborns. Among 3000 newborns, their mean ages were 9.3±2.43 days; mean weight was 3.1 ±0.82 Kg. Among them 1800( 60% ) males and 1200 (40% ) females who attended the central hospital and medical units for BCG vaccination in the duration from March 2005 to May 2008.
Results: The results showed that the mean of phenylalanine level
was 3.19 ±1.82 mg/dl and the mean total galactose level was 3.34 ± 2.23mg/ dl, among the 3000 neonates, 2183 (72.8. %) had phenylalanine levels ranging from 2-5 mg /dl, 705 (23.5%) had levels ranging from 5-7 mg/dl, 111(3.7%) had levels ranging from 7-10 mg/dl and one newborn (0.033%) had phenylalanine level of 22 mg/dl. The results for galactosemia screening assay showed that 2528 neonates (84.3%) had galactose levels ranging from 2-6 mg/dl, 450 (15%) had levels ranging from 6-8 mg/dl, 21(0.7%) had levels ranging from 8-12 mg/dl and one newborn (0.033%) had galactose level of 19 mg/dl. The child was reassayed and was found to be true hypergalactosemia 120mg/dl.
Conclusion: We concluded that the prevalence of each of phenylketonuria and galactosemia in Menoufiya Governorate in the 3000 newborn tested was 1/3000 (0.03%). So, we estimate that about 333 neonates are affected every year with PKU and 333 with galactosemia as one million babies are born yearly, which could be prevented. The prevention of such treatable disorders depends on planning an efficient screening programme especially within three weeks after birth. So we recommend multicenter studies to encourage national neonatal screening programmes specialy for these treatable diseases.

Key Words: Phenylketonuria, galactosemia, hepatomegaly, neonatal screening.