Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.
A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.
D002262:Carboxy-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D004920:Erythropoiesis; D006720:Homozygote; D006801:Humans; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics*; D011166:Porphyrins / Q000378:metabolism; D012871:Skin Diseases / Q000235:genetics; D013489:Suppression, Genetic; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood / Q000172:deficiency*
D011166:Porphyrins; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase