title: Enzyme heterogeneity in the porphyrias.
abstract: The use of immunological methods for measuring enzyme mass has identified several varieties of porphyria in which the reduction of porphyrin enzyme activity is not accompanied by a corresponding change in the enzyme mass. Currently, acute intermittent porphyria and hepatoerythropoietic porphyria have exhibited this phenomenon. In porphyria cutanea tarda, it has recently been shown that the pattern of enzyme deficiency in erythrocytic and nonerythrocytic tissues does not strictly follow the inheritance pattern (familial and sporadic) previously described. Also, contrary to previous dogma, some cases of type 1 porphyria cutanea tarda appear to be positive for cross reactive immunological material (CRIM).
authors: Section of Biochemistry, Ottawa General Hospital, Ontario, Canada.
authors: J T
authors: JT
authors: Hindmarsh
mesh_terms: D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000737:chemistry* / Q000235:genetics; D007120:Immunochemistry; D007527:Isoenzymes / Q000737:chemistry* / Q000235:genetics; D008107:Liver Diseases / Q000201:enzymology; D011164:Porphyrias / Q000145:classification / Q000201:enzymology*; D012871:Skin Diseases / Q000201:enzymology
chemical_list: D007527:Isoenzymes; D011163:Hydroxymethylbilane Synthase