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JIMD Reports, Volume 28 pp 127–135Cite as

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)

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Part of the book series: JIMD Reports ((JIMD,volume 28))

Abstract

This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens. This relatively high prevalence resulted from the frequent consanguineous marriages (81.5%) among affected families. The following eight disorders accounted for 80% of the entities: biotinidase deficiency (14 of 55), phenylketonuria (11 of 55), 3-methylcrotonyl glycinuria (9 of 55), medium-chain acyl-CoA dehydrogenase deficiency (4 of 55), argininosuccinic aciduria, glutaric aciduria type 1, glutaric aciduria type 2, and methylmalonyl-CoA mutase deficiency (2 of 55 each). Mutation analysis was performed in 48 (87%) of the 55 patients, and 33 distinct mutations were identified. Twenty-nine (88%) mutations were clinically significant and, thus, could be included in our premarital screening. Most mutations were homozygous, except for the biotinidase deficiency. The BTD mutations c.1207T>G (found in citizens) and c.424C>A (found in Somalians) were associated with undetectable biotinidase activity. Thus, the high prevalence of IEM in our region is amenable to newborn and premarital screening, which is expected to halt most of these diseases.

Competing interests: None declared

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Acknowledgment

We are indebted to the families for their invaluable contributions and to Dr. O. Y. Dirbashi for the critical review of the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, United Arab Emirates University, Al-Ain, UAE

    Fatma A. Al-Jasmi, Sania M. Al-Hamad & Abdul-Kader Souid

  2. Tawam Hospital, Al-Ain, UAE

    Aisha Al-Shamsi & Jozef L. Hertecant

Authors
  1. Fatma A. Al-Jasmi
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  2. Aisha Al-Shamsi
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  3. Jozef L. Hertecant
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  4. Sania M. Al-Hamad
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  5. Abdul-Kader Souid
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Corresponding author

Correspondence to Fatma A. Al-Jasmi .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Rodney Pollitt, PhD

Appendices

Compliance with Ethical Guidelines

Authors’ Contributions

FAJ and AKS developed the concept of the study and wrote the first and final versions of the manuscript. AS, JH, and SA collected the patients’ data. All authors read and approved the final manuscript.

Conflict of Interest

Competing Interests

Aisha Al Shamsi, Jozef Hertecant, Sania Al Hamad, and Abdulkader Souid declare that they have no conflict of interest. Fatma Al-Jasmi has received a speaker honorarium from Genzyme and Shire.

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© 2015 SSIEM and Springer-Verlag Berlin Heidelberg

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Al-Jasmi, F.A., Al-Shamsi, A., Hertecant, J.L., Al-Hamad, S.M., Souid, AK. (2015). Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014). In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 28. JIMD Reports, vol 28. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_512

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  • DOI: https://doi.org/10.1007/8904_2015_512

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-52846-4

  • Online ISBN: 978-3-662-52847-1

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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