الملخص
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.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1545
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 14(1), 42-49
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Alshamsi, A., Hertecant, J. L., Souid, S., Abdul-Kader, & Al-Jasmi, F. (2025). Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. Sultan Qaboos University Medical Journal, 14(1), 42-49. https://doi.org/10.18295/2075-0528.1545
MLA 9
Alshamsi, Aisha, et al. "Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates." Sultan Qaboos University Medical Journal, vol. 14, no. 1, 2025, pp. 42-49. https://doi.org/10.18295/2075-0528.1545.
شيكاغو (المؤلف–التاريخ)
Alshamsi, Aisha, Jozef L. Hertecant, Sania Souid, Abdul-Kader, and Fatma Al-Jasmi. 2025. "Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates." Sultan Qaboos University Medical Journal 14 (1): 42-49. https://doi.org/10.18295/2075-0528.1545.
هارفارد
Alshamsi, A., Hertecant, J. L., Souid, S., Abdul-Kader and Al-Jasmi, F. (2025) 'Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates', Sultan Qaboos University Medical Journal, 14(1), pp. 42-49. doi:10.18295/2075-0528.1545.
فانكوفر
Alshamsi A, Hertecant JL, Souid S, Abdul-Kader, Al-Jasmi F. Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. Sultan Qaboos University Medical Journal. 2025;14(1):42-49. doi:10.18295/2075-0528.1545
IEEE
A. Alshamsi, J. L. Hertecant, S. Souid, Abdul-Kader, and F. Al-Jasmi, "Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates," Sultan Qaboos University Medical Journal, vol. 14, no. 1, pp. 42-49, 2025, doi: 10.18295/2075-0528.1545.