Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
Journal
Journal of the Chinese Medical Association
Journal Volume
73
Journal Issue
6
Pages
314-318
Date Issued
2010
Author(s)
Cheng K.-H.
Liu M.-Y.
Kao C.-H.
Chen Y.-J.
Hsiao K.-J.
Liu T.-T.
Lin H.-Y.
Huang C.-H.
Chiang C.-C.
Ho H.-J.
Lin S.-P.
Lin J.-L.
Hung P.-Y.
Niu D.-M.
Abstract
Background: The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening. Methods: Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology. A total of 22 newborns were referred to confirmatory medical centers, and 7 were confirmed as having MMA. The initial propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio, plasma ammonia, liver function tests, blood pH and bicarbonate were compared between the true-positive and false-positive groups. Results: The C3/C2 ratio and plasma ammonia were markedly higher in the true-positive MMA group (p < 0.0001). Blood gas pH (p = 0.029), bicarbonate (p = 0.019), and aspartate aminotransferase (p = 0.005) also significantly differed between these 2 groups. Conclusion: Referred newborns with elevated plasma C3/C2 ratios > 0.4 or ammonia levels > 200 mg/dL should be highly suspected of having MMA. ? 2010 Elsevier.
SDGs
Other Subjects
acetylcarnitine; ammonia; aspartate aminotransferase; bicarbonate; propionylcarnitine; acetylcarnitine; ammonia; carnitine; methylmalonic acid; propionylcarnitine; article; blood gas; blood pH; clinical article; controlled study; diagnostic accuracy; false negative result; false positive result; human; laboratory test; liver function test; methylmalonic aciduria; newborn; newborn screening; Taiwan; tandem mass spectrometry; analogs and derivatives; blood; newborn screening; procedures; urine; Acetylcarnitine; Ammonia; Carnitine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Taiwan; Tandem Mass Spectrometry; Acetylcarnitine; Ammonia; Carnitine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Taiwan; Tandem Mass Spectrometry
Type
journal article