PhenomeGene — Human Disease Gene Website SeriesATIC

Management

Treatment for AICA-Ribosiduria focuses on managing symptoms, as there is currently no cure. Care typically includes developmental support in specialized centers, regular eye exams to detect vision problems, treatment of seizures (with no single medication proven to be more effective), growth monitoring, and checking for bone or spine issues such as scoliosis.

In 2024, one person with the condition showed a positive biological response to a diet high in purines, with lower levels of AICA-riboside detected in their urine. Following this, a clinical trial began in 2025 (see the ClinicalTrials website) to study whether this dietary approach could help others and to better understand its effects.