Inborn errors of metabolism in the United Arab Emirates: Disorders detected by newborn screening (2011–2014)

Fatma A. Al-Jasmi, Aisha Al-Shamsi, Jozef L. Hertecant, Sania M. Al-Hamad, Abdul Kader Souid

Research output: Chapter in Book/Report/Conference proceedingChapter

21 Citations (Scopus)

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.

Original languageEnglish
Title of host publicationJIMD Reports
PublisherSpringer
Pages127-135
Number of pages9
DOIs
Publication statusPublished - 2016

Publication series

NameJIMD Reports
Volume28
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Biotinidase deficiency
  • Glutaric aciduria type
  • Maple Syrup urine disease
  • Newborn screening
  • Propionic acidemia

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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