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

Journal of Medical Screening
Fayza A HassanMohamed A Elmonem

Abstract

To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme 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. Dried 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 spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders. Among the healthy newborns, 13 metabolic disorder cases (five phenylketonuria [1:5,000], two methylmalonic acidemia, and isovaleric acidemia [1:12,500], one each of maple syrup urine disease, propionic acidemia, β-ketothiolase deficiency, and primary carnitine deficiency [1:25,000]) were confirmed, giving a total birth prevalence of 1:1944 live births. Among the clinically suspected children, 235 cases were diagnosed, represent...Continue Reading

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Citations

Feb 15, 2019·Orphanet Journal of Rare Diseases·Tímea AlmásiTamás Zelei
Feb 7, 2020·Clinical and Experimental Pediatrics·Hamid Reza ShorakaFarzaneh Zolala
May 30, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Özlem DemirelceIbrahim Unsal
Jun 1, 2018·BioMed Research International·Ashraf El-MetwallyAli Nasser AlOdaib
Feb 14, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Elsayed AbdelkreemAbdelrahim A Sadek
Feb 24, 2021·Neuropediatrics·Abdelrahim A SadekElsayed Abdelkreem
May 18, 2021·Journal of Pediatric Genetics·Marwa A DahpyAmir M Abo Elgeit
Aug 26, 2021·Molecular Genetics & Genomic Medicine·Montaser M MohamedHany M Abo-Haded

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