Hereditary coproporphyria


Type of disease: Rare conditions

Hereditary coproporphyria is an autosomal dominant form of liver (hepatic) porphyria that is very similar to acute intermittent porphyria, although it is usually a less severe disease.  It results from low levels of the enzyme responsible for the sixth step in heme production – coproporphyrinogen oxidase.  This enzyme speeds the conversion of coproporphyrinogen to protoporphyrinogen. In coproporphyria, the porphyrin precursors porphobilinogen and amino-levulinic acid (ALA) accumulate, as well as the formed porphyrin coproporphyrin. This leads to abdominal pain, neuropathies, constipation, and skin changes. Treatment is dependent on the symptoms. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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