Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase.
1. Erythrocyte uroporphyrinogen decarboxylase activity has been measured in 27 patients with porphyria cutanea tarda, of whom 11 had a family history of overt porphyria cutanea tarda. 2. Eight patients from six families had erythrocyte uroporphyrinogen decarboxylase activities that were decreased to about half of control values. This decrease was shown by family studies to be inherited as an autosomal dominant characteristic. Two of these patients had no family history of overt porphyria cutanea tarda. 3. Nineteen patients had uroporphyrinogen decarboxylase activities close to or within the range found in 18 control subjects. Of these, five patients had a family history of porphyria cutanea tarda. 4. Inheritance of an autosomal dominant gene which decreases uroporphyrinogen decarboxylase activity in erythrocytes and liver is an uncommon cause of porphyria cutanea tarda and may not explain all cases of familial porphyria cutanea tarda. The hepatic enzyme defect in the common type of porphyria cutanea tarda, in which erythrocyte uroporphyrinogen decarboxylase activity is normal, may be caused either by inheritance of a gene whose effect is restricted to the liver or by gene whose effect is restricted to the liver or by chemicals that selectively inhibit the hepatic enzyme.
D000293:Adolescent; D000328:Adult; D002262:Carboxy-Lyases / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D011166:Porphyrins / Q000652:urine; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood*
D011166:Porphyrins; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase