AICA-ribosiduria
AICA-ribosiduria
Definition
AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
Also known as 5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, ATIC deficiency — per MONDO