Case report
Open access
Aug 2026
Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases
AACD should be considered in adolescents and adults with otherwise unexplained recurrent hyperammonemic encephalopathy, especially when ammonia elevation is disproportionate to liver disease, and molecular testing enables definitive diagnosis and timely management.
T. N. Pham, Van Huy Vo, Q. H. Nguyen et al.
· Journal of Clinical Medicine · 0 citations