Preferred Label : coproporphyria, hereditary;

MeSH definition : An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.;

MeSH synonym : coproporphyrinogen oxidase deficiency; deficiency, coproporphyrinogen oxidase; hereditary coproporphyria;

Wikipedia link : https://en.wikipedia.org/wiki/Coproporphyria, hereditary;

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An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79273
2011
France
scientific and technical information
coproporphyria
coproporphyria, hereditary
coproporphyria

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28/04/2025


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