Carnosinemia

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Abstract
A LARGE number of inborn errors of amino acid metabolism have now been described,1 and the list of such conditions probably is far from complete. Many of these disorders present themselves as abnormal aminoacidurias, often with associated mental deficiency and neurologic disease. We report herewith preliminary investigations on 2 patients who appear to have a new disorder of this type, involving impaired cleavage of imidazole dipeptides.A systematic program of simple chemical screening tests2 and two-dimensional paper chromatography for amino acids is being carried out on the urines of all patients newly admitted to a local hospital for mental defectives. . . .