The Excretion of Porphyrins in Congenital Porphyria.

In 1915 Hans Fischer identified the kinds and types of porphyrins excreted in congenital porphyria (1, 2, 3), and since that time 8 cases of this rare disease have been studied by qualitative, chemical methods (4 to 11). No quantitative studies of the total excretion of porphyrins in this condition have been made, however, and although reports of the therapeutic effect of liver extract on acute porphyria are recorded in the literature (12, 13, 14), complete detailed observations have not been published. In this communication qualitative studies of the types and kinds of porphyrins excreted in 3 cases of congenital porphyria are recorded, together with quantitative studies of the coproporphyrin excretion and the effect of liver extract therapy on that excretion in 2 of the cases. The methods used for the qualitative and quantitative determinations of the urinary and fecal porphyrins, except uroporphyrin, are those previously reported (15, 16). Uroporphyrin was isolated by the method of Fischer and Duesberg (11), but because of the lack of a suitable method it was not measured quantitatively. In all instances a thorough search for isomeric and hitherto undescribed porphyrins was made. The dinical material studied was as follows: Case I (Rochester) (20). A clinical report has been published (29). Case II (Baltimore), Hospital record number 98673, Harriet Lane Home, Johns Hopkins Hospital. Case III (San Francisco). A preliminary report concerning the photosensitivity in this child has already been published by Blum and Hardgrave (17).