Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda.
Immunoreactive uroporphyrinogen decarboxylase was measured by rocket immuno-electrophoresis in haemolysates from 7 unrelated patients with familial porphyria cutanea tarda (PCT), 6 patients with sporadic PCT, and 7 normal subjects. In all patients with familial PCT immunoreactive enzyme protein was decreased (51% of normal), to the same extent as catalytic activity (56% of normal), whereas in sporadic PCT both measurements were normal. These results show that familial PCT is commonly caused by a mutation which does not lead to the production of non-catalytic cross-reactive immunological material. Familial PCT can be distinguished from other types of PCT by a simple immunoelectrophoretic method that does not involve measurement of uroporphyrinogen decarboxylase activity and which is therefore likely to be suitable for routine diagnostic use.
D002262:Carboxy-Lyases / Q000276:immunology*; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007122:Immunoelectrophoresis; D008099:Liver / Q000201:enzymology; D009154:Mutation; D011164:Porphyrias / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D012871:Skin Diseases / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics / Q000276:immunology* / Q000378:metabolism
D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase