Study data from Sultan Qaboos University provide new insights into mass spectrometry
2007 OCT 30 -- Scientists discuss in 'Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman' new findings in mass spectrometry. According to recent research published in the journal Brain and Development, "'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," wrote S.N. Joshi and colleagues, Sultan Qaboos University. The researchers concluded: "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." Joshi and colleagues published their study in Brain and Development (Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman. Brain and Development, 2007;29(9):543-6). For additional information, contact S.N. Joshi, Sultan Qaboos University Hospital, Division of Metabolic Diseases, Blue 1 Ward, PO Box 38, PC 123, Muscat, Oman. The publisher's contact information for the journal Brain and Development is: Elsevier Science BV, PO Box 211, 1000 AE Amsterdam, Netherlands. Keywords: Oman, Muscat, Inborn Errors of Metabolism, Mass Spectrometry. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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