Management is symptomatic and includes global developmental support within appropriate care structures, screening for visual impairment, treatment of epilepsy without a preferred antiepileptic drug, monitoring of growth, and surveillance of skeletal deformities, particularly spinal abnormalities.
In 2024, one patient treated with a purine-rich diet showed a favorable biological response, with a reduction in urinary AICA-riboside levels.
In 2025, a clinical trial (see ClinicalTrials website) was initiated to evaluate the reproducibility and clinical impact of this treatment approach.
ATIC