کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3038527 1184472 2007 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman
چکیده انگلیسی

We reviewed the clinical profile of our neonates diagnosed to have inborn errors of metabolism (IEM) by Tandem Mass Spectrometry (TMS) over a seven years period, and compared the results with published reports. We also attempted to evaluate various clinical situations wherein the screening test would yield a high pick up rate. Among the 166 neonates studied (10 aged 1 day, 79 aged 2–7 days and 77 aged 8–28 days), significant abnormalities on TMS suggestive of IEM were detected in 38 babies (23%), most common diseases diagnosed were maple syrup urine disease (10 neonates), propionic acidemia (8 neonates), urea cycle diseases (6 neonates) and isovaleric acidemia (4 neonates). The detection incidence was calculated to be one positive case out of every 4 to 5 babies tested. A high prevalence of parental consanguinity and high level of positive family history of affected siblings were the highlights of this study. The major clinical situations where testing was helpful were (a) unexplained acute neonatal encephalopathy, (b) positive family history of known or suspected IEM and (c) new born presenting with abnormal serum biochemistry suggestive of IEM.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 29, Issue 9, October 2007, Pages 543–546
نویسندگان
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