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.
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Authors | A Knapp |
Journal | Zeitschrift 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 Title | Uber Porphyrinerkrankungen unter besonderer Berücksichtigung der Vererbung. |
PMID | 7303763
(Publication Type: English Abstract, Journal Article)
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Chemical References |
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Topics |
- Adult
- Environment
- Genetic Counseling
- Genetics, Medical
- Humans
- Male
- Pedigree
- Porphyrias
(diagnosis, genetics)
- Porphyrins
(analysis)
- Skin Diseases
(diagnosis, genetics)
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