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ACUTE INTERMITTENT PORPHYRIA
Author(s) -
CURNOW D. H.,
MORGAN E. H.,
SARFATY G. A.
Publication year - 1959
Publication title -
australasian annals of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0571-9283
DOI - 10.1111/imj.1959.8.4.267
Subject(s) - acute intermittent porphyria , porphyria cutanea tarda , porphyria , medicine , disease , pediatrics
Summary A family in which 11 cases of acute intermittent porphyria were found in three consecutive generations has been studied. Evidence is presented that inheritance was by an autosomal dominant gene. The usefulness of the Watson and Schwartz test in such a study and in the diagnosis of acute cases is discussed. It is suggested that it be applied to all relatives of known acute porphyrics. The disease as seen in this family is identical clinically, genetically and biochemically with that found in Sweden, and quite distinct from porphyria cutanea tarda.