Porphyria classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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## Overview

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## Classification

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The 8 porphyrias are:

1. Acute intermittent Porphyria (AIP)
2. ALA dehydratase deficiency
3. Porphyria cutanea tarda (PCT)
4. Congenital Erythropoetic Porphyria (CEP)
5. Hepatoerythropoetic Porphyria (HEP)
6. Erythopoetic Protoporphyria (EPP)
7. Hereditary coproporphyria (HCP)
8. Variegate Porphyria (VP)

These disorders can also be divided based on the type of precursors that accumulate and the subsequent manifestations that occur. ALA dehydratase deficiency (Plumboporphyria) and AIP are characterized by the accumulation of -aminolevulinic acid (ALA) and Porphobilinogen (PBG). Their manifestations are primarily neuropathic. PCT, CEP, HEP and EEP are characterized by accumulation of porphyrin and have cutaneous manifestations only. HCP and VP have accumulation of porphyrin precursors and porphyrins. They have both neuropathic and cutaneous manifestations.

Enzyme | Location of enzyme | Associated porphyria | Type of porphyria

|
|
|

δ-aminolevulinate (ALA) synthase | Mitochondrion  | X-linked sideroblastic anemia (XLSA)  | Erythropoietic
δ-aminolevulinate (ALA) dehydratase  | Cytosol  | Doss porphyria/ALA dehydratase deficiency | Hepatic
hydroxymethylbilane (HMB) synthase (or PBG deaminase)  | Cytosol  | acute intermittent porphyria (AIP)  | Hepatic
uroporphyrinogen (URO) synthase | Cytosol  | Congenital erythropoietic porphyria (CEP)  | Erythropoeitic
uroporphyrinogen (URO) decarboxylase | Cytosol  | Porphyria cutanea tarda (PCT)  | Hepatic
coproporphyrinogen (COPRO) oxidase | Mitochondrion  | Hereditary coproporphyria (HCP)  | Hepatic
protoporphyrinogen (PROTO) oxidase | Mitochondrion  | Variegate porphyria (VP)  | Mixed
Ferrochelatase | Mitochondrion  | Erythropoietic protoporphyria (EPP)  | Erythropoietic

## References

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