Diagnosis of Hurler's syndrome in the hospital laboratory and the determination of its genetic type.

Abstract

A simple method of screening urine for cases of Hurler''s syndrome, based on a precipitation reaction between the polycationic detergent cetyl pyridinium chloride and polyanionic muco-polysaccharides, is described. Concentration of the macromolecular components of urine by ultrafiltration, followed by electrophoresis on cellulose acetate and staining with Alcian Blue, provides excellent separation of the urinary mucopolysaccharides, detects false positive precipitation reactions due to excess mucoprotein, and distinguishes clearly between the autosomal recessive form of Hurler''s syndrome, which excretes chondroitin sulphate in excess, and the sex-linked recessive form, which excretes both heparitin sulfate and chondroitin sulfate in excess.