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.;
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