International Journal of Healthcare and Medical Sciences
Online ISSN: 2414-2999
Print ISSN: 2415-5233
Print ISSN: 2415-5233
Quarterly Published (4 Issues Per Year)
Archives
Volume 5 Number 4 April 2019
Neonatal Onset Argininosuccinic Acidemia in a Set of Twins: A Case Report
Authors: El Wadiah Ziad ; Babatunde Kayode-Adedeji ; Nafiu Liadi
Pages: 18-21
DOI: doi.org/10.32861/ijhms.54.18.21
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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