Neonatal Onset Argininosuccinic Acidemia in a Set of Twins: A Case Report
Journal: International Journal of Healthcare and Medical Sciences (Vol.5, No. 4)Publication Date: 2019-04-15
Authors : El Wadiah Ziad; Babatunde Kayode-Adedeji; Nafiu Liadi;
Page : 18-21
Keywords : Neonatal; Onset; Argininosuccinic; Aciduria.;
Abstract
Aim: To highlight the challenge in the management of Arginosuccinic acidemia as well as demonstrate the importance of newborn screening for inborn errors of metabolism. Method: Report of two cases of neonatal onset ASA with encephalopathy and review of relevant literature. Conclusion: Early diagnosis and institution of appropriate intervention can significantly improve outcome. Routine newborn metabolic screening should not only be implemented universally, the result should be available promptly.
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Last modified: 2019-08-02 15:03:15