Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The 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. 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. Conclusion: The IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening الهدف : هدفت الدراسة إلى تحديد مدى انتشار الأمراض الاستقلابية و معرفة طفراتها الوراثية. الطريقة : تضمنت تسجيل كل الطفرات الوراثية في جميع المرضى الذين تم تشخيصهم بالأمراض الاستقلابية (بعد استبعاد أمراض الاختزان في الجسيمات) (أمراض التخزين الليسوسومية) في مركز الأمراض الاستقلابية بمستشفى توام بأبو ظبي – الإمارات العربية المتحدة خلال الفترة من يناير 1995 إلى مايو 2013 و من ثم تم تقدير معدل انتشار الأمراض الاستقلابية (لكل 100,1000 مواليد أحياء) النتائج : تم تشخيص 57 مرضا من مختلف الأمراض الاستقلابية في 189 مريض منهم 20 (35%) من فئة أمراض الاختزان في الجسيمات الحالة (65 مريض لديهم 39 طف