title: Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.
abstract: Catalytic and immunoreactive erythrocyte uroporphyrinogen decarboxylase was measured in a woman with hepatoerythropoietic porphyria (HEP). The uroporphyrinogen decarboxylase activity was 24% of the mean value for normal controls and the concentration of the immunoreactive enzyme (106 ng/mgHb), measured with the rocket immunoelectrophoresis technique, did not differ from that of healthy controls. Consequently, catalytically inactive, cross-reactive immunological material (CRIM) was present, and the patient was CRIM-positive. This enzyme activity and immunoreactive enzyme concentration differs from those for previously known HEP patients, and represents a new mutation, evidence for heterogeneity in inherited uroporphyrinogen decarboxylase deficiency.
authors.affiliation: Department of Dermatology, Albert Szent-Györgyi Medical University, Szeged, Hungary.
authors.forename: F
authors.initials: F
authors.lastname: Kószó
authors.forename: G H
authors.initials: GH
authors.lastname: Elder
authors.forename: A
authors.initials: A
authors.lastname: Roberts
authors.forename: N
authors.initials: N
authors.lastname: Simon
mesh_terms: D002262:Carboxy-Lyases / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D008107:Liver Diseases / Q000201:enzymology* / Q000235:genetics; D009154:Mutation; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics; D012871:Skin Diseases / Q000201:enzymology* / Q000235:genetics; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency*
chemical_list: D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase