A Disturbance of Tryptophan Metabolism in Congenital Hypoplastic Anæmia

Abstract

THE clinical entity originally designated as congenital hypoplastic anæmia¹ and more recently termed erythrogenesis imperfecta² is a rare type of anæmia characterized by an erythroid hypoplasia of the bone marrow, by normocytic and normochromic circulating red cells, and by the lack of response to any of the known erythropoietic agents. In the course of some metabolic studies conducted on one such patient whose anæmia was diagnosed shortly after birth and who had been studied for four years by one of the authors (G. M.), a strongly bluishfluorescent substance was noted in the urine. (This patient has been studied through the kindness of Dr. C. P. Katsampes.) This fluorescent material was identified as anthranilic acid by chromatographic methods³, isolation from the patient's urine, and by spectroscopic techniques. The R _F of this fluorescent material was 0.90 in butanol : acetic acid : water, 1 : 1 : 5, in agreement with the R _F of a known sample of anthranilic acid. The melting point of the material isolated (144–146°) and the absorption spectrum are identical with comparable data reported in the literature for anthranilic acid.