ArticleJIMD reports2016
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.BioMed research international · 2018Pooled it
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Guideline
- A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.Frontiers in pediatrics · 2026Article
- Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model.Journal of human immunity · 2025Review
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.International journal of neonatal screening · 2025Article
- A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates.JIMD reports · 2025Article
- An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.Scientific reports · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.Cureus · 2023Article
- Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.Frontiers in pediatrics · 2021Article
- Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis.Clinical and experimental pediatrics · 2020Article
- Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.Human mutation · 2019Review
- Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq.Oman medical journal · 2019Article
- A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.Iranian journal of child neurology · 2018Article
- Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.PloS one · 2017Article
- Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study.Saudi journal of medicine & medical sciencesArticle
- Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.Genetics and molecular biologyArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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