Screening for phenylketonuria and galactosemia among Egyptian newborns in menoufiya governorate
المؤلفون المشاركون
Fateen, Ekram M.
Jawdah, Amr
al-Araby, Hana
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 10، العدد 2 (30 نوفمبر/تشرين الثاني 2009)، ص ص. 164-176، 13ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2009-11-30
دولة النشر
مصر
عدد الصفحات
13
التخصصات الرئيسية
الموضوعات
الملخص EN
Aim of the Work: Was to study the prevalence of phenylketonuria and galactosemia in Menoufiya Governorate newborns.
Among 3000 newborns, their mean ages were 9.3±2.43 days; mean weight was 3.1 ±0.82 Kg.
Among them 1800( 60% ) males and 1200 (40% ) females who attended the central hospital and medical units for BCG vaccination in the duration from March 2005 to May 2008.
Results: The results showed that the mean of phenylalanine level was 3.19 ±1.82 mg/dl and the mean total galactose level was 3.34 ± 2.23mg/ dl, among the 3000 neonates, 2183 (72.8.
%) had phenylalanine levels ranging from 2-5 mg /dl, 705 (23.5%) had levels ranging from 5-7 mg/dl, 111(3.7%) had levels ranging from 7-10 mg/dl and one newborn (0.033%) had phenylalanine level of 22 mg/dl.
The results for galactosemia screening assay showed that 2528 neonates (84.3%) had galactose levels ranging from 2-6 mg/dl, 450 (15%) had levels ranging from 6-8 mg/dl, 21(0.7%) had levels ranging from 8-12 mg/dl and one newborn (0.033%) had galactose level of 19 mg/dl.
The child was reassayed and was found to be true hypergalactosemia 120mg/dl.
Conclusion: We concluded that the prevalence of each of phenylketonuria and galactosemia in Menoufiya Governorate in the 3000 newborn tested was 1/3000 (0.03%).
So, we estimate that about 333 neonates are affected every year with PKU and 333 with galactosemia as one million babies are born yearly, which could be prevented.
The prevention of such treatable disorders depends on planning an efficient screening programme especially within three weeks after birth.
So we recommend multicenter studies to encourage national neonatal screening programmes specialy for these treatable diseases.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Araby, Hana& Fateen, Ekram M.& Jawdah, Amr. 2009. Screening for phenylketonuria and galactosemia among Egyptian newborns in menoufiya governorate. The Egyptian Journal of Medical Human Genetics،Vol. 10, no. 2, pp.164-176.
https://search.emarefa.net/detail/BIM-203641
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Araby, Hana…[et al.]. Screening for phenylketonuria and galactosemia among Egyptian newborns in menoufiya governorate. The Egyptian Journal of Medical Human Genetics Vol. 10, no. 2 (Nov. 2009), pp.164-176.
https://search.emarefa.net/detail/BIM-203641
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Araby, Hana& Fateen, Ekram M.& Jawdah, Amr. Screening for phenylketonuria and galactosemia among Egyptian newborns in menoufiya governorate. The Egyptian Journal of Medical Human Genetics. 2009. Vol. 10, no. 2, pp.164-176.
https://search.emarefa.net/detail/BIM-203641
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 173-176
رقم السجل
BIM-203641
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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