Catalog

AICAR transformylase deficiency

No MMS code

Link to WHO Definition

AICAR transformylase deficiency – http://id.who.int/icd/entity/536386745

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterised clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.