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.
Highlights
Argininosuccinic acidemia (ASA) known as Argininosuccinate lyase deficiency is an inborn error of metabolism affecting the urea cycle
ASA is caused by mutations in the ASL gene (7q11.21) that encodes the enzyme argininosuccinate lyase
We present a nine day old male late preterm neonate admitted to the neonatal intensive care unit (NICU) with a two day history of reduced activity and poor suck
Summary
Argininosuccinic acidemia (ASA) known as Argininosuccinate lyase deficiency is an inborn error of metabolism affecting the urea cycle. ASA is caused by mutations in the ASL gene (7q11.21) that encodes the enzyme argininosuccinate lyase This enzyme catalyzes the conversion of argininosuccinic acid into arginine and fumarate during the fourth step of the urea cycle. Defects in this step of the urea cycle lead to an accumulation of plasma ammonia, argininosuccinic acid, citrulline, and urinary orotic acid, and to a plasma arginine deficiency [1,2,3]. Clinical findings are usually non-specific and similar to those seen in infants with other inborn errors of metabolism or infections
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