ArticleJIMD reports2026
Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case.
Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe hyperammonemic encephalopathy. Laboratory investigations revealed hyperammonemia, respiratory alkalosis, transaminitis, dyslipidemia, hyperglutaminemia, and mild hypercitrullinemia. Brain imaging showed delayed myelination and basal ganglia abnormalities. Management involved arginine supplementation, ammonia scavengers, protein restriction and antiepileptic drugs. The patient died at 33 months of age from severe hyperammonemia and lactic acidosis. Next-generation sequencing identified two homozygous variants affecting distinct urea cycle-related genes:
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