Article

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology

2022-10-21

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Introduction</h4> Argininosuccinate lyase is integral to the urea cycle, which enables nitrogen waste and biosynthesis of arginine, a precursor of nitric oxide. Inherited argininosuccinate lyase deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency. Patients present with developmental delay, epilepsy an...

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Literature Corpus work: 7d69f616-643d-53b0-b668-8ce9b7759d77
DOI: 10.1101/2022.10.19.22281191

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