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[Porphyrin diseases with particular emphasis on hereditary].

Abstract
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.
AuthorsA Knapp
JournalZeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete (Z Gesamte Inn Med) Vol. 36 Issue 11 Pg. 377-81 (Jun 01 1981) ISSN: 0044-2542 [Print] Germany
Vernacular TitleUber Porphyrinerkrankungen unter besonderer Berücksichtigung der Vererbung.
PMID7303763 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Porphyrins
Topics
  • Adult
  • Environment
  • Genetic Counseling
  • Genetics, Medical
  • Humans
  • Male
  • Pedigree
  • Porphyrias (diagnosis, genetics)
  • Porphyrins (analysis)
  • Skin Diseases (diagnosis, genetics)

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