Acute Intermittent Porphyria
Acute Intermittent Porphyria is a deficiency in porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMB synthase). A deficiency of PBGD is not sufficient by itself to produce AIP, and other activating factors must also be present. These include hormones, drugs and dietary changes. Sometimes, activating factors cannot be identified.
Associated Genes
| Gene Name | Chromosome number | BMRB Entries | PDB Entries |
|---|---|---|---|
| UROS | 10 | BMRB Entries | PDB Entries |
| HMBS | 11 | PDB Entries |