Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation
المؤلفون المشاركون
Mobarak, Amira
Dawoud, Heba
Mokhtar, Wesam A.
Sadek, Abdelrahim A.
Bebars, Gihan Mohamed
Othman, Amr Ahmed
Magdy, Rofaida M.
Nofal, Hanaa
Zoair, Amr
المصدر
International Journal of Pediatrics
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-11-21
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis.
In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation.
Results.
This is a retrospective review of 20 patients with PA (n=10) and MMA (n=10).
The most observed symptoms were vomiting (85%) and refusing feeding (70%).
Ammonia was 108.75±9.3 μmol/l, showing a negative correlation with pH and bicarbonate and positive correlation with lactate and anion gap.
Peak ammonia did not correlate with age of onset (r=0.11 and p=0.64) or age at diagnosis (r=0.39 and p=0.089), nor did pH (r=0.01, p=0.96; r=−0.25, p=0.28) or bicarbonate (r=0.07, p=0.76; r=−0.22, p=0.34).
There was no correlation between ammonia and C3 : C2 (r=0.1 and p=0.96) or C3 (r=0.23 and p=0.32).
The glycine was 386±167.1 μmol/l, and it was higher in PA (p=0.003).
There was a positive correlation between glycine and both pH (r=0.56 and p=0.01) and HCO3 (r=0.49 and p=0.026).
There was no correlation between glycine and ammonia (r=−0.435 and p=0.055) or lactate (r=0.32 and p=0.160).
Conclusion.
Clinical presentation of PA and MMA is nonspecific, though vomiting and refusing feeding are potential markers of decompensation.
Blood gas, lactate, and ammonia levels are also good predictors of decompensation, though increasing levels of glycine may not indicate metabolic instability.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Mobarak, Amira& Dawoud, Heba& Mokhtar, Wesam A.& Sadek, Abdelrahim A.& Bebars, Gihan Mohamed& Othman, Amr Ahmed…[et al.]. 2020. Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation. International Journal of Pediatrics،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1173654
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Mobarak, Amira…[et al.]. Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation. International Journal of Pediatrics No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1173654
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Mobarak, Amira& Dawoud, Heba& Mokhtar, Wesam A.& Sadek, Abdelrahim A.& Bebars, Gihan Mohamed& Othman, Amr Ahmed…[et al.]. Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation. International Journal of Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1173654
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1173654
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