AICAR transformylase/IMP cyclohydrolase deficiency

Synonym(s)
- AICA-ribosiduria
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ATIC / Bifunctional purine biosynthesis protein ATIC
  2q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Bifunctional purine biosynthesis protein ATIC
Disease group(s)
- 16.2 Disorders of purine metabolism