Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis A study from Tawam Hospital Metabolic Center, United Arab Emirates
Journal Title: Sultan Qaboos University Medical Journal - Year 2014, Vol 14, Issue 1
Abstract
Objectives: Tis study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: Te 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. Results: In 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. Tis 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 defciency had compound heterozygous mutations, and two siblings with lysinuric protein intolerance had two homozygous mutations. Te 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 defciency [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]). Te remaining 58 (94%) mutations were each found in individual tribes. Te prevalence was 48.37/100,000. Te most prevalent diseases (2.2–4.9/100,000) were biotinidase defciency; tyrosinemia type 1; phenylketonuria; propionic aciduria; glutaric aciduria type 1; glycogen storage disease type Ia, and mitochondrial deoxyribonucleic acid depletion. Conclusion: Te IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. Tese results justify implementing prevention programmes that incorporate genetic counselling and screening.
Authors and Affiliations
Aisha Al-Shamsi| Tawam Hospital, Al Ain, United Arab Emirates, Jozef L. Hertecant| Tawam Hospital, Al Ain, United Arab Emirates, Sania Al-Hamad| Department of Paediatrics, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates, Abdul-Kader Souid| Department of Paediatrics, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates, Fatma Al-Jasmi| Department of Paediatrics, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
Keywords
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