Acute intermittent porphyria

Synonym(s)
- Porphobilinogen deaminase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HMBS / Hydroxymethylbilane Synthase
  11q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hydroxymethylbilane synthase
Disease group(s)
- 17.1 Disorders of heme synthesis and porphyrias