AICA-Ribosiduria is caused by changes in both copies of the ATIC gene, which prevent the gene from working properly. This gene normally helps the body produce purines, essential molecules used in DNA, energy, and cell function. When ATIC doesn’t work, certain substances—especially AICA-riboside and succinyladenosine—build up in the body and can be found in the urine, even though they are usually not present in healthy individuals.
These biochemical abnormalities can be identified through a highly specialized laboratory test, which is not available in all countries or medical centers. The genetic changes responsible for the condition are often found using broad genetic tests such as exome or genome sequencing.
ATIC