Laila A Selim1, Sawsan Abdel-Hady Hassan2, Fadia Salem3, Azza Orabi1, Fayza A Hassan4, Fatma El-Mougy4, Iman Gamal-Eldin Mahmoud5, Amira El-Badawy5, Marian Y Girgis1, Mohamed A Elmonem6, Dina Mehaney4. 1. Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Egypt; Inherited Metabolic Disease Unit, Cairo University Children Hospital, Cairo, Egypt. 2. Inherited Metabolic Disease Unit, Cairo University Children Hospital, Cairo, Egypt; Department of Pediatric Genetics, Faculty of Medicine, Cairo University, Egypt. 3. Department of Pediatric Neurology, Faculty of Medicine, Cairo University, Egypt; Department of Pediatric Genetics, Faculty of Medicine, Cairo University, Egypt. 4. Inherited Metabolic Disease Unit, Cairo University Children Hospital, Cairo, Egypt; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Egypt. 5. Inherited Metabolic Disease Unit, Cairo University Children Hospital, Cairo, Egypt. 6. Inherited Metabolic Disease Unit, Cairo University Children Hospital, Cairo, Egypt; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Egypt. Electronic address: mohamed.abdelmonem@kasralainy.edu.eg.
Abstract
OBJECTIVE: In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period of 5 years and to compare the disease burden in Egypt in the absence of a national screening program for inherited metabolic disorders with other populations. METHODS: During this period 3380 Egyptian children were suspected of having IEMs based on clinical/laboratory presentation and were analyzed by MS/MS. Confirmatory testing was performed according to flagged analyte by MS/MS using a different sample type such as plasma or urine or by a different technique such as GC/MS. RESULTS: A relatively high number of patients (203/3380 (6%)) were confirmed with 17 different types of IEMs. Averages for age at diagnosis for different disorders ranged from 2.5 months to 6.6 years with general developmental delay and irreversible neurological damage being the most common presenting features (75.9% and 65.5%, respectively). Amino acid disorders (127/203 (62.6%)), mainly phenylketonuria (100/203 (49.3%)), were the most encountered, followed by organic acidemias (69/203 (34%)), while fatty acid oxidation defects (7/203 (3.4%)) were relatively rare. 88% of patients were born to consanguineous parents. CONCLUSIONS: The development of a nationwide screening program for IEMs is mandatory for early detection of these potentially treatable disorders, prompt and properly timed therapeutic intervention and prevention of the devastating neurological outcomes.
OBJECTIVE: In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period of 5 years and to compare the disease burden in Egypt in the absence of a national screening program for inherited metabolic disorders with other populations. METHODS: During this period 3380 Egyptian children were suspected of having IEMs based on clinical/laboratory presentation and were analyzed by MS/MS. Confirmatory testing was performed according to flagged analyte by MS/MS using a different sample type such as plasma or urine or by a different technique such as GC/MS. RESULTS: A relatively high number of patients (203/3380 (6%)) were confirmed with 17 different types of IEMs. Averages for age at diagnosis for different disorders ranged from 2.5 months to 6.6 years with general developmental delay and irreversible neurological damage being the most common presenting features (75.9% and 65.5%, respectively). Amino acid disorders (127/203 (62.6%)), mainly phenylketonuria (100/203 (49.3%)), were the most encountered, followed by organic acidemias (69/203 (34%)), while fatty acid oxidation defects (7/203 (3.4%)) were relatively rare. 88% of patients were born to consanguineous parents. CONCLUSIONS: The development of a nationwide screening program for IEMs is mandatory for early detection of these potentially treatable disorders, prompt and properly timed therapeutic intervention and prevention of the devastating neurological outcomes.
Authors: Mohamed A Elmonem; Iman G Mahmoud; Dina A Mehaney; Sahar A Sharaf; Sawsan A Hassan; Azza Orabi; Fadia Salem; Marian Y Girgis; Amira El-Badawy; Magy Abdelwahab; Zeinab Salah; Neveen A Soliman; Fayza A Hassan; Laila A Selim Journal: Indian J Pediatr Date: 2016-02-02 Impact factor: 1.967
Authors: Yasser F Ali; Salah El-Morshedy; Riad M Elsayed; Amr M El-Sherbini; Saber Am El-Sayed; Nasser Ismail A Abdelrahman; Abdulbasit Abdulhalim Imam Journal: Neuropsychiatr Dis Treat Date: 2017-04-19 Impact factor: 2.570
Authors: Zeinab Salah Seliem; Dina Ahmed Mehaney; Laila Abd Elmoteleb Selim; Sonia Ali El-Saiedi; Reem Ibrahim Ismail; Nihal Magdi Almenabawy; Rasha Ibrahim Ammar; Inas AbdElsattar Saad; Mohammed Mosad Soliman; Mohamed A Elmonem Journal: Afr Health Sci Date: 2022-03 Impact factor: 1.108