Dr George Diaz and Dr Spyros Batzios join the podcast to discuss a slight more unusual UCD, Arginase deficiency. They discuss the clinical features of the condition, the current management and a promising new therapy.
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
Nandaki Keshavan, et al
https://doi.org/10.1002/jmd2.12266
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency
George A. Diaz, et al
https://doi.org/10.1002/jimd.12343
