Prevalence of inborn errors of amino acid metabolism among Egyptians in the Genetic Unit, Pediatric Department, Ain Shams University from January 2007 to June 2013

Abstract

Diagnosis of aminoacidopathies constitutes a real challenge in a developing country with high consanguinity rate and no newborn screening programs. The number of diagnosed inborn errors of amino acid metabolism is growing constantly due to the availability of recent analytical technique as tandem mass spectrometry (MS/MS) which is considered an important new technology for neonatal screening and diagnosis of inborn errors of metabolism (IEMs). Reviewing data of patients with aminoacidopathies presented to the metabolic clinic, Genetics Unit, from January 2007 to June 2013 revealed the possibility of a high prevalence of these diseases among Egyptians, the commonest was PKU (84%). Middle Eastern cultures are heavily consanguineous. Marriage between cousins has been part of the culture leading to a large number of autosomal recessive diseases. In this study, parental consanguinity was high (7