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Patterns of inborn errors of metabolism : a 12 year single-Center Hospital-Based Study in Libya
المؤلف
المصدر
العدد
المجلد 22، العدد 2 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-9، 9ص.
الناشر
تاريخ النشر
2013-12-31
دولة النشر
قطر
عدد الصفحات
9
التخصصات الرئيسية
الموضوعات
الملخص EN
Inborn errors of metabolism (IEM) are mostly transmitted as autosomal recessive disorders and are therefore more frequent in countries with high consanguinity rates such as in the Arab world.
Objective : To study the socio-demographic characteristics and the clinical presentation of IEM in Libyan children and to shed light on our experience in dealing with these disorders.
Methods : This is a descriptive case series hospitalbased study of 107 children attending the Metabolic Unit at El-Khadra Teaching Hospital (MUKH) in Tripoli, Libya.
The study took place between January 2001 and December 2012.
Information was collected from caregivers and from all available hospital records on the following variables : age, sex, birth order, place of residence, age at onset, presenting complaints and family history of the same illness.
Results : During the 12-year study period, there were 55,422 live births at El-Khadra Teaching Hospital and 107 children were diagnosed with 46 different metabolic disorders.
A significantly high consanguinity rate was observed (86.9 %) among parents of the affected children.
Family history of previous affected children was noted in 63.5 % of cases.
Male to female ratio was 1.18:1.
The most frequent IEM cases were amino acids disorders (25 %), carbohydrate disorders (14.9 %), lysosomal storage diseases (14 %), organic aciduria and energy metabolic defects (9.3 % each).
The main clinical presentations were jaundice, hepatomegaly and seizures.
Most children presented between one and six months of age (43.4 %) ; whereas the median age at diagnosis was eight months.
Thirty-eight children (35.5 %) were born at El-Khadra Hospital with IEM giving a birth prevalence of 1:1458 live births, (1:6158 for aminoaciduria and 1:6927 for carbohydrate disorders).
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Ubaydi, Hanna. 2013. Patterns of inborn errors of metabolism : a 12 year single-Center Hospital-Based Study in Libya. Qatar Medical Journal،Vol. 22, no. 2, pp.1-9.
https://search.emarefa.net/detail/BIM-369012
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Ubaydi, Hanna. Patterns of inborn errors of metabolism : a 12 year single-Center Hospital-Based Study in Libya. Qatar Medical Journal Vol. 22, no. 2 (2013), pp.1-9.
https://search.emarefa.net/detail/BIM-369012
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Ubaydi, Hanna. Patterns of inborn errors of metabolism : a 12 year single-Center Hospital-Based Study in Libya. Qatar Medical Journal. 2013. Vol. 22, no. 2, pp.1-9.
https://search.emarefa.net/detail/BIM-369012
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 8-9
رقم السجل
BIM-369012
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
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