New form of dual porphyria: coexistent acute intermittent porphyria and porphyria cutanea tarda.
A previously unrecognized form of dual porphyria has been identified in four patients. One male and one female with acute symptoms were diagnosed as having acute intermittent porphyria (AIP), and two males with cutaneous and acute symptoms were diagnosed as having porphyria cutanea tarda (PCT). Biochemically, the excretion of haem precursors showed a complex constellation, with signs characteristic of both AIP and PCT. In one male, a clinical course with both overt PCT and acute manifestations of AIP was observed. Enzyme studies of haem biosynthesis in erythrocytes revealed a dual deficiency, with decreased activity of both porphobilinogen deaminase, as seen in AIP, and uroporphyrinogen decarboxylase, as seen in PCT. A family study showed that the two disorders do not consistently segregate together. These findings suggest that the dual porphyria reflects a double heterozygous condition of coexistent AIP and PCT genes in the same subject.
Doss
M O
MO
Department of Clinical Biochemistry, Faculty of Medicine, Philipp University, Marburg an der Lahn, FRG.
D000328:Adult; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D008107:Liver Diseases / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D017118:Porphyria, Acute Intermittent; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D012871:Skin Diseases / Q000201:enzymology* / Q000503:physiopathology; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood / Q000172:deficiency
D006418:Heme; D011163:Hydroxymethylbilane Synthase; D014575:Uroporphyrinogen Decarboxylase