A Suggested Control Gene Mechanism for the Excessive Production of Types I and Iii Porphyrins in Congenital Erythropoietic Porphyria

Onset of Manifestations of Hepatic Porphyria in Relation to the Influence of Female Sex Hormones

“…mittency of the disease and the adverse effects of porphyrogens which may further disturb an already inadequate repressoroperator mechanism 56. Granick 57 has shown that porphyrogenic chemicals produce ex¬ perimental porphyria by inducing ALA synthetase in the liver.…”

The porphyrias: a review.

“…In 1965, Tschudy, Perlroth, Marver, Collins, Hunter, and Rechcigl reported marked increase in the activity of ALA-S, the rate-limiting enzyme of hepatic protohaem synthesis, in the liver of a patient who had died from acute intermittent porphyria. This finding, since confirmed in other patients using liver tissue obtained by open surgical or needle biopsy (Nakao, Wada, Kitamura, Uono, and Urata, 1966;Dowdle, Mustard, and Eales, 1967;Masuya, 1969;Strand et al, 1970), provided the first direct evidence in support of the suggestion of Watson, Runge, Taddeini, Bossenmaier, and Cardinal (1964) that acute intermittent porphyria is an 'overproduction' disease in which excessive amounts of porphyrin precursors are produced due to an inherited defect in the regulation of ALA-S activity. An increase in the activity of this enzyme in the liver has since been found in variegate porphyria (Dowdle et al, 1967;Strand et al, 1970) and in hereditary coproporphyria (Kaufman and Marver, 1970; McIntyre, Pearson, Allan, Craske, West, Moore, Paxton, Beattie, and Goldberg, 1971.…”

Studies on Porphyrin Biosynthesis and the Enzymes Involved in Bovine Congenital Erythropoietic Porphyria

“…Watson et al (1964) found increased synthesis, especially of uroporphyrin I, in erythrocyte haemolysates from a porphyric cow. Masuya ( 1969) found porphobilinogen deaminase activity in the blood slightly higher in a CEP patient than in normal man.…”

“…Previous studies on porphyrin biosynthesis in vitro in bovine CEP were performed by Watson et al (1964), Smith & Kaneko (1966) and Levin (1968). Watson et al (1964) found increased synthesis, especially of uroporphyrin I, in erythrocyte haemolysates from a porphyric cow.…”