ACUTE PORPHYRIA

Abstract

ACUTE porphyria is a familial metabolic disease of unknown etiology characterized by repeated attacks of severe abdominal colic, associated usually with constipation and often with vomiting, and accompanied with abnormalities of the central nervous system amounting in many cases to rapidly fatal ascending paralysis. It has generally been thought that an essential feature of the condition is the passage of red urine containing an excess of porphyrins and other pigments, but recently it has become appreciated that these pigments are frequently excreted in the form of a colorless precursor. Waldenstrom and Vahlquist (1939)1gave this precursor the name porphobilinogen and claimed that, whereas it is stable in alkaline solution, in acid solution it is converted to uroporphyrin and to a urobilinoid pigment, porphobilin. This was confirmed by Prunty (1945).2The present paper describes a fatal case of porphyria, the clinical features of which were typical of the condition