Porphyria
From IDWiki
Definition
- Any of a group of disorders caused by a defect in the heme synthesis pathway
Types of Porphyrias
| Porphyria | Defect | Characteristics |
|---|---|---|
| Acute intermittent porphyria | Hydroxymethylbilane synthase | Intermittent attacks of severe abdominal pain triggered by certain stressors |
| Porphyria cutanea tarda | Uroporphyrinogen decarboxylase | Blistering skin lesions |
Pathophysiology
graph TD; alas[ALA synthase]; style alas fill:none,stroke:none alad[ALA dehydratase]; style alad fill:none,stroke:none hmbs[Hydroxymethylbilane synthase]; style hmbs fill:none,stroke:none upiiis[Uroporphyrinogen III synthase]; style upiiis fill:none,stroke:none nonenz[Non-enzymatic]; style nonenz fill:none,stroke:none updc[Uroporphyrinogen decarboxylase]; style updc fill:none,stroke:none cppo[Coproporphyrinogen oxidase]; style cppo fill:none,stroke:none ppo[Protoporphyrinogen oxidase]; style ppo fill:none,stroke:none ferro[Ferrochelatase]; style ferro fill:none,stroke:none succ[Succinyl CoA] glycine[Glycine] daa[delta-aminolevulinic acid] porpho[Porphobilinogen] hmb[Hydroxymethylbilane] uropoiii[Uroporphyrinogen III] uropoi[Uroporphyrinogen I / Uroporphyrin I] coproiii[Coproporphyrinogen III] cpcp[Coproporphyrinogen I / Coproporphyrin I] protogenix[Protoporphyrinogen IX] protoix[Protoporphyrin IX] heme[Heme] succ --- alas glycine --- alas alas --> daa daa --- alad alad --> porpho porpho --- hmbs hmbs --> hmb hmb --- upiiis hmb --- nonenz upiiis --> uropoiii uropoiii --- updc nonenz --> uropoi uropoi --- updc updc --> coproiii coproiii --- cppo updc --> cpcp cppo --> protogenix protogenix --- ppo ppo --> protoix protoix --- ferro ferro --> heme
