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

Autor:	Hassan FA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., El-Mougy F; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Sharaf SA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Mandour I; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Morgan MF; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Selim LA; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Hassan SA; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Salem F; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Oraby A; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Girgis MY; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Mahmoud IG; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., El-Badawy A; Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., El-Nekhely I; Ministry of Health & Population, Cairo, Egypt., Moharam N; Ministry of Health & Population, Cairo, Egypt., Mehaney DA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt., Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt Inherited Metabolic Disease Unit, Center of Social and Preventive Medicine, Cairo University, Cairo, Egypt mohamed.abdelmonem@kasralainy.edu.eg.
Jazyk:	angličtina
Zdroj:	Journal of medical screening [J Med Screen] 2016 Sep; Vol. 23 (3), pp. 124-9. Date of Electronic Publication: 2016 Jan 20.
DOI:	10.1177/0969141315618229
Abstrakt:	Objectives: 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. Methods: 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. Results: 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, representing a much wider disease spectrum. Conclusions: Egypt has one of the highest reported birth prevalence rates for metabolic disorders detectable by tandem mass spectrometry. Early diagnosis and management are crucial for the survival and well-being of affected children. A nationwide NBS programme by tandem mass spectrometry is recommended. (© The Author(s) 2016.)
Databáze:	MEDLINE
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