ArticleSultan Qaboos University medical journal2014
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Article in Sultan Qaboos University medical journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 42 citations in OpenAlex.
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.JIMD reports · 2025Article
- Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.PloS one · 2025Article
- Prevalence of propionic acidemia in China.Orphanet journal of rare diseases · 2023Review
- Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population.Journal of pediatric genetics · 2023Article
- Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.Iranian biomedical journal · 2023Article
- Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.Molecular genetics & genomic medicine · 2022Review
- Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis.Molecular genetics and metabolism reports · 2021Article
- Transient Insulin Resistance in Propionic Acidaemia: Knowing is half the battle.Sultan Qaboos University medical journal · 2021Article
- Neonatal isovaleric acidemia in China: A case report and review of literature.World journal of clinical cases · 2021Article
- Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.Molecular vision · 2021Article
- Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population.Genes · 2020Article
- [DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Review
- Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.Orphanet journal of rare diseases · 2019Article
- Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.Human mutation · 2019Review
- Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.Scientific reports · 2018Article
- Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.Molecular genetics and metabolism reports · 2018Article
- A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.Iranian journal of child neurology · 2018Article
- Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.Experimental and therapeutic medicine · 2017Article
- Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.Orphanet journal of rare diseases · 2016Article
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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
objectivesThis study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis.
methodsThe reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD]) at Tawam Hospital Metabolic Center in Abu Dhabi, United Arab Emirates, between January 1995 and May 2013. Disease prevalence (per 100,000 live births) was estimated from data available for 1995-2011.
resultsIn 189 patients, 57 distinct IEM were diagnosed, of which 20 (35%) entities were previously reported LSD (65 patients with 39 mutations), with a birth prevalence of 26.87/100,000. This study investigated the remaining 37 (65%) patients with other IEM (124 patients with 62 mutations). Mutation analysis was performed on 108 (87%) of the 124 patients. Five patients with biotinidase deficiency had compound heterozygous mutations, and two siblings with lysinuric protein intolerance had two homozygous mutations. The remaining 103 (95%) patients had homozygous mutations. As of this study, 29 (47%) of the mutations have been reported only in Emiratis. Two mutations were found in three tribes (biotinidase deficiency [BTD, c.1330G>C] and phenylketonuria [PAH, c.168+5G>C]). Two mutations were found in two tribes (isovaleric aciduria [IVD, c.1184G>A] and propionic aciduria [PCCB, c.990dupT]). The remaining 58 (94%) mutations were each found in individual tribes. The prevalence was 48.37/100,000. The most prevalent diseases (2.2-4.9/100,000) were biotinidase deficiency; tyrosinemia type 1; phenylketonuria; propionic aciduria; glutaric aciduria type 1; glycogen storage disease type Ia, and mitochondrial deoxyribonucleic acid depletion.
conclusionThe IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening.
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