Inheritance of porphyria cutanea tarda*.
- 1 December 1977
- journal article
- research article
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 97 (6) , 617-627
- https://doi.org/10.1111/j.1365-2133.1977.tb14268.x
Abstract
Existence of hereditary porphyria cutanea tarda [PCT] must be supported by chemical and clinical investigations capable of discriminating this porphyria from porphyria variegata because the clinical symptoms may overlap. On the basis of such investigations (normal urinary excretion of .delta.ALA [aminolevulinic acid] and of porphobilinogen; urinary excretion of large amounts of 8- and 7-carboxyl porphyrins; fecal coproporphyrin and X porphyrin fractions may be increased) 14 cases were classified out of 200 cases of PCT that were observed in the last 7 yr, as hereditary PCT. The 14 patients belong to 5 different families: 2 members in each of the 1st 3 families, 3 members in the 4th and 5 members in the 5th. In this last family heredity is biliteral.This publication has 11 references indexed in Scilit:
- THE OCCURRENCE AND DETERMINATION OF δ-AMINOLEVULINIC ACID AND PORPHOBILINOGEN IN URINEPublished by Elsevier ,2021
- Liver in Porphyria cutanea tardaPublished by S. Karger AG ,2015
- An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.Journal of Clinical Investigation, 1976
- Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.Proceedings of the National Academy of Sciences, 1975
- A new method for the determination of urinary porphyrinsClinica Chimica Acta; International Journal of Clinical Chemistry, 1973
- PORPHYRIA CUTANEA TARDA—A GENETIC DISEASE?Acta Medica Scandinavica, 1973
- Amounts of Faecal Porphyrin-Peptide Conjugates in the PorphyriasClinical Science, 1972
- Free Erythrocyte Copro‐ and Protoporphyrin A Methodological and Clinical StudyActa Paediatrica, 1960
- The porphyrias as inborn errors of metabolismThe American Journal of Medicine, 1957