This website provides information on patients with mutations in the ATIC gene, including clinical data, molecular data, management and research options.

The syndrome AICA-Ribosiduria, caused by mutations in the ATIC gene, is an early-onset multisystem disorder characterized by mostly severe neurodevelopmental delay, epilepsy, growth retardation, severe scoliosis, and visual defects due to macular dystrophy. More recently, less severely affected individuals are beginning to be reported. AICA-Ribosiduria results from a deficiency of ATIC, the bifunctional enzyme catalyzing the final two steps of de novo purine biosynthesis. Loss of ATIC function leads to the accumulation of the purine biosynthesis intermediate AICAriboside (AICA-r), detectable in urine and other body fluids. Inheritance is autosomal recessive. The condition is ultra-rare, with only a few cases described in the literature. There is currently no curative treatment, and management is supportive.

Not all individuals with a mutation in the ATIC gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ATIC gene.

Francis Ramond, MD, PhD, Saint-Etienne University Hospital, Saint-Etienne, France, francis.ramond@chu-st-etienne.fr