OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME

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Abstract
The presence of abnormal amounts of a chemically unidentified substance in tissues of patients with the Hurler syndrome (lipochondrodystrophy gargoylism dysostosis multiplex) was recognized. Brante recovered a substance with characteristics of an acid mucopolysaccharide from tissues obtained at autopsy (liver, meninges) of patients with this disorder. This material was similar to or identical with chondroitin sulfuric acid (CSA). This communication describes the isolation and identification of 2 acid mucopolysaccharides from the urine of a 6-year-old Negro girl who has the typical grotesque skeletal and facial deformities, hepatosplenomegaly, and corneal clouding characteristic of this disorder. The site of origin of these polysaccharides is unknown, but the assumption reasonable is that the fundamental defect resides in the connective tissues. It is probable that the distortion of tissues in this heritable disorder is related to an abnormality of mucopolysaccharide metabolism. The Hurler syndrome thus may be considered the 1st known example of a human disorder involving such a metabolic anomaly.