The effect of diet in variegate (South African genetic) porphyria

Abstract

Studies of the effect of diet on porphyrin and porphyrin precursor excretion in two patients with variegate (mixed or South African genetic) porphyria demonstrate that these are inversely related to the intake of carbohydrate and/or protein in the diet. During the course of severe dietary restriction, symptoms developed, suggesting an acute attack of the disease in both patients. In one patient, this was accompanied by the syndrome of “inappropriate release of antidiuretic hormone” into the circulation. Symptoms and biochemical findings rapidly reversed with intravenous glucose administration. These data imply that hepatic δ-aminolevulinic acid synthetase is induced in variegate porphyria and is subject to what has previously been called the “glucose effect.”