Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: A 5year report

Selim, Laila; Hassan, Sawsan Abdel-Hady; Salem, Fadia; Orabi, Azza; Hassan, Fayza A.; El-Mougy, Fatma; Mahmoud, Iman G.; El-Badawy, Amira; Girgis, Marian; Elmonem, Mohamed A.; Mehaney, Dina A.

doi:10.1016/j.clinbiochem.2014.04.002

Cited by 38 publications

(52 citation statements)

References 26 publications

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“…One abnormal finding in tandem mass spectrometry points to several different metabolic diseases as shown in Table 1 19 20 21) . One of the reasons for such abnormal result is that the acylcarnitine isomers cannot be differentiated by tandem mass spectrometry.…”

Section: Metabolites As a Targeted Marker On Dried Blood-spot And Inbmentioning

confidence: 99%

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

Yoon

2015

Ann Pediatr Endocrinol Metab

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The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.

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Section: Metabolites As a Targeted Marker On Dried Blood-spot And Inbmentioning

confidence: 99%

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

Yoon

2015

Ann Pediatr Endocrinol Metab

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“…Similarly, Al-Jasmi et al [17] in UAE declared that, among all metabolic disorders detected including PKU, consanguinity was 81.5%. Alternatively, Selim et al [34] showed that 88% of patients were born to consanguineous parents in Egypt. These results concur with Moammar et al [25] findings in Saudi Arabia revealing all detected cases to have consanguineous parents.…”

Section: Discussionmentioning

confidence: 99%

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

El-Metwally

Al-Ahaidib

Sunqurah

et al. 2018

BioMed Research International

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Background/Objectives This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. Results The prevalence of classical PKU diagnosed through a comprehensive national newborn screening program ranged from 0.005% to 0.0167%. The highest prevalence was reported in Turkey at 0.0167%, whereas the lowest prevalence was reported in the UAE, 0.005%. Conclusion The findings of this review emphasize the need for the establishment of more efficient reporting systems in these countries that would help measure Disability-Adjusted Life Year (DALY) in order to estimate the overall societal burden of PKU.

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“…Incidence in most Arab countries is unknown. Reports from Saudi Arabia, 6 Egypt, 7 Oman, 8 Libya, 9 and Lebanon 10 indicate a prevalence of NKH in 3 to 5% of detected aminoacidopathy cases. Classic NKH typically present in the neonatal period with seizures and apnea and variable degrees of psychomotor delay and/or intellectual disability.…”

Section: Introductionmentioning

confidence: 99%

Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review

et al. 2019

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Nonketotic hyperglycinemia is a rare inborn error of glycine metabolism characterized by a severe metabolic encephalopathy with drug-resistant seizures. Here, we report the outcome of nonketotic hyperglycinemia in a cohort of patients diagnosed and followed-up at a tertiary care reference center in Lebanon, between 2000 and 2014.Eight out of 12 patients with nonketotic hyperglycinemia were retrospectively reviewed. The remainders were excluded for incomplete data. The majority of cases presented with seizures and hypsarrhythmia or burst suppression patterns. Half of the patients died. Survival varied between 7 days and 18 years. Seizures remained unresponsive with poor outcome, despite standard supportive care and antiepileptic therapy; however, two patients were responsive to ketogenic diet and one of them became seizure-free.Scarce data on the outcome of nonketotic hyperglycinemia patients from the Middle East and North Africa region are available. The ketogenic diet, in combination with standard therapies, appears to be effective in controlling the seizures in this devastating disorder. Larger multicenter studies are still needed to establish the role of the ketogenic diet in nonketotic hyperglycinemia.

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Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: A 5year report

Cited by 38 publications

References 26 publications

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review

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