New form of dual porphyria: coexistent acute intermittent porphyria and porphyria cutanea tarda

European Journal of Clinical Investigation
M O Doss

Abstract

A previously unrecognized form of dual porphyria has been identified in four patients. One male and one female with acute symptoms were diagnosed as having acute intermittent porphyria (AIP), and two males with cutaneous and acute symptoms were diagnosed as having porphyria cutanea tarda (PCT). Biochemically, the excretion of haem precursors showed a complex constellation, with signs characteristic of both AIP and PCT. In one male, a clinical course with both overt PCT and acute manifestations of AIP was observed. Enzyme studies of haem biosynthesis in erythrocytes revealed a dual deficiency, with decreased activity of both porphobilinogen deaminase, as seen in AIP, and uroporphyrinogen decarboxylase, as seen in PCT. A family study showed that the two disorders do not consistently segregate together. These findings suggest that the dual porphyria reflects a double heterozygous condition of coexistent AIP and PCT genes in the same subject.

References

Aug 1, 1979·The American Journal of Medicine·M E GrossmanL C Harber
Feb 16, 1978·The New England Journal of Medicine·A V BenedettoJ S Taylor
Aug 10, 1978·The New England Journal of Medicine·G H ElderJ A Tovey
Oct 31, 1978·Human Genetics·H de VerneuilY Nordmann
Dec 1, 1975·Proceedings of the National Academy of Sciences of the United States of America·C J WatsonZ J Petryka
Jan 1, 1987·Annals of the New York Academy of Sciences·M O Doss
Aug 17, 1967·The New England Journal of Medicine·K B KnudsenF Lecocq
Jun 15, 1972·The New England Journal of Medicine·U A MeyerH S Marver
Jun 5, 1982·Lancet·M DossF Sixel
Nov 1, 1984·The British Journal of Dermatology·R E AshtonI A Magnus
Apr 1, 1982·The New England Journal of Medicine·B F FelsherA T Nunn
Jul 1, 1982·The New England Journal of Medicine·R S DayD Meissner
Jul 16, 1980·Biochemical and Biophysical Research Communications·M MeislerT B Shows

❮ Previous
Next ❯

Citations

Oct 1, 1993·The International Journal of Biochemistry·M R Moore
Jan 1, 1990·Journal of Inherited Metabolic Disease·Y NordmannD Lesbros
Apr 1, 1994·Annals of Medicine·A GregorH Stachurska
Aug 3, 2006·Experimental Dermatology·Pamela Poblete-GutiérrezJorge Frank
Jul 31, 2007·Journal of the European Academy of Dermatology and Venereology : JEADV·A BharatiC M King
Nov 13, 2008·Nature Clinical Practice. Neurology·George H Elder, Sverre Sandberg
Jan 8, 2016·Annual Review of Pharmacology and Toxicology·Maggie L Bobbin, John J Rossi
Oct 31, 2020·Case Reports in Genetics·G N CerbinoM V Rossetti

❮ Previous
Next ❯

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