Imidazole aminoaciduria in cerebromacular degeneration.

Three families in which there are five patients with cerebromacular degeneration have been studied, and preliminary findings show that both the patients and some of the members of their immediate families have generalized imidazole aminoaciduria. The patients excrete large amounts of carnosine and anserine as well as histidine and 1-methyl histidine. The urinary defect appears to be transmitted as a dominant trait and the cerebromacular degeneration as a recessive trait. The fact that the two traits have been found in three unrelated families makes it likely that the two are manifestations of the same gene.