Hereditary coproporphyria

Common Name(s)

Hereditary coproporphyria

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary coproporphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hereditary coproporphyria" returned 14 free, full-text research articles on human participants. First 3 results:

Structural basis of hereditary coproporphyria.
 

Author(s): Dong-Sun Lee, Eva Flachsová, Michaela Bodnárová, Borries Demeler, Pavel Martásek, C S Raman

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2005 Oct;102(40):14232-7.

 

Hereditary coproporphyria is an autosomal dominant disorder resulting from the half-normal activity of coproporphyrinogen oxidase (CPO), a mitochondrial enzyme catalyzing the antepenultimate step in heme biosynthesis. The mechanism by which CPO catalyzes oxidative decarboxylation, ...

Last Updated: 7 Oct 2005

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Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
 

Author(s): Caroline Schmitt, Laurent Gouya, Eva Malonova, Jérôme Lamoril, Jean-Michel Camadro, Magali Flamme, Christian Rose, Said Lyoumi, Vasco Da Silva, Catherine Boileau, Bernard Grandchamp, Carole Beaumont, Jean-Charles Deybach, Hervé Puy

Journal: Hum. Mol. Genet.. 2005 Oct;14(20):3089-98.

 

Hereditary coproporphyria (HCP), an autosomal dominant acute hepatic porphyria, results from mutations in the gene that encodes coproporphyrinogen III oxidase (CPO). HCP (heterozygous or rarely homozygous) patients present with an acute neurovisceral crisis, sometimes associated with ...

Last Updated: 5 Oct 2005

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Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.
 

Author(s): H Takeuchi, M Kondo, M Daimon, S Susa, K Ueoka, O Uemura, H Togari

Journal: Blood. 2001 Dec;98(13):3871-3.

 

The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. ...

Last Updated: 12 Dec 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hereditary coproporphyria" returned 1 free, full-text review articles on human participants. First 3 results:

Lamotrigine in the treatment of psychotic depression associated with hereditary coproporphyria -- case report and a brief review of the literature.
 

Author(s): Rozália Takács, Zoltán Makkos, Ákos Kassai-Farkas, Ágnes Pusztai, Gábor S Ungvári, Gábor Gazdag

Journal: Neuropsychopharmacol Hung. 2014 Mar;16(1):43-6.

 

We report a successful treatment with lamotrigine of a patient with hereditary coproporphyria presenting with affective and psychotic symptoms.

Last Updated: 1 Apr 2014

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

Condition Summary: Hereditary Coproporphyria (HCP); Acute Intermittent Porphyria (AIP); Variegate Porphyria (VP)

 

Last Updated: 23 Sep 2013

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Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 25 Feb 2014

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