Parents

AICA-Ribosiduria is a very rare genetic disorder that begins early in life and affects multiple body systems. It is most often associated with severe developmental delay, epilepsy, slow growth, vision problems due to damage in the central part of the retina (macula), and severe scoliosis (curvature of the spine). However, more recently, some individuals with milder symptoms have also been identified.

The condition is caused by changes (mutations) in the ATIC gene, which lead to a deficiency in an important enzyme needed for the body to make purines—essential building blocks for DNA and energy. Without this enzyme, certain substances (including AICA-riboside) build up in the body and can be detected in urine.

AICA-Ribosiduria is inherited in an autosomal recessive manner, meaning a child must inherit the faulty gene from both parents to be affected. There is currently no cure, and treatment focuses on managing symptoms and supporting development.