AICA-ribosiduria
From BugSigDB
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.
- Aliases
- 5-amino-4-imidazole carboxamide ribosiduria
- AICA-ribosiduria
- Aica-Ribosuria due to Atic deficiency
- AICAR transformylase/IMP cyclohydrolase deficiency
- ATIC deficiency
- Atic deficiency
