[Porphyrin diseases with particular emphasis on hereditary].
During the last 10 years our knowledge concerning the basis defect in porphyrias has increased so that a better genetic family advice. The following basis defects were found: 1. Uroporphyrinogen-III-cosynthetase in porphyria erythropoetica congenita, 2. haem-synthetase in protoporphyria erythropoetica, 3. uroporphyrinogen-1-synthetase in porphyria acuta intermittens, 4. uroporphyrinogen-carboxylase in porphyria cutanea tarda. According to this in porphyria cutanea tarda a genetic defect is supposed, which leads to the disease in connection with the environmental factors. On the basis of the biochemical findings a better understanding of the heredity is possible which is discussed in detail.
D000328:Adult; D004777:Environment; D005817:Genetic Counseling; D005826:Genetics, Medical; D006801:Humans; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000175:diagnosis / Q000235:genetics*; D011166:Porphyrins / Q000032:analysis; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*
D011166:Porphyrins
Uber Porphyrinerkrankungen unter besonderer Berücksichtigung der Vererbung.