Figure 1. [Excretion profile of the hepatic porphyrias]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

Excretion profile of the hepatic porphyrias

Profile of heme precursor excretion for the types of hepatic porphyria. The pathway of heme synthesis (arrows) is served by a series of enzymes (boxes). Pathogenic variants that decrease the function of a particular enzyme change the profile of heme precursors in urine and/or stool (vertical dashed lines) to one that is characteristic of the specific type of porphyria. The vertical bars depict the relative change in each metabolite, not the absolute amount. To illustrate, the urine PBG in HCP and AIP during an attack may reach similar levels.

Enzyme abbreviations:

ALAD = delta-aminolevulinic acid (ALA) dehydratase

HMBS = hydroxymethylbilane synthase; also known as porphobilinogen (PBG) deaminase

UROD = uroporphyrinogen (UROgen) decarboxylase

CPOX = coproporphyrinogen(COPROgen) decarboxylase

PPOX = protoporphyrinogen(PROTOgen) decarboxylase

FECH = ferrochelatase

From: Hereditary Coproporphyria

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Wang B, Bissell DM. Hereditary Coproporphyria. 2012 Dec 13 [Updated 2022 May 19]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 1. [Excretion profile of the hepatic porphyrias].
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