Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

ObjectivesTo estimate the burden of metabolic disordersdetectable by tandem mass spectrometryin Egypt, through a pilot expanded newborn screeningprogramme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children’s Hospital for the same disorders over the past 7 years using the same technology.MethodsDried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometrydetectable metabolic disorders, and the relative frequency of several individual disorders.ResultsAmong the healthy newborns, 13 metabolic disordercases (five phenylketonuria[1:5,000], two methylmalonic acidemia, and isovalericacidemia [1:12,500], one each of maple syrup urine...