ResearchBib Share Your Research, Maximize Your Social Impacts
Sign for Notice Everyday Sign up >> Login

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:

Authors : ; ; ;

Page : 18-21

Keywords : Neonatal; Onset; Argininosuccinic; Aciduria.;

Source : Downloadexternal Find it from : Google Scholarexternal

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.

Last modified: 2019-08-02 15:03:15