Distinction Among Four Forms of Hurler's Syndrome.

Abstract

Summary Analysis of the urinary AMPS from individuals with Hurler's syndrome indicates there are 4 forms that can be distinguished by their excretion pattern. The classical autosomal recessive form was shown to excrete significantly more chondroitin sulfate B in proportion to heparitin sulfate than the classical sex-linked cases. Both forms were shown to excrete a fraction of chondroitin sulfate B that would precipitate as the calcium salt with 10% alcohol which is in contrast to the behavior of this substance isolated from other sources. An atypical “adult form” (autosomal recessive) was shown to excrete chondroitin sulfate B and heparitin sulfate in excess, but no fraction of con-droitin sulfate B was obtained that would precipitate as the calcium salt with 10% alcohol. Another atypical form, which shows primarily degeneration associated with the nervous system, was shown to be inherited in an autosomal recessive manner and to excrete only heparitin sulfate in excess. The authors extend their thanks to Dr. H. Scheie for allowing them to examine urine samples from 2 of his collected cases of atypical Hurler's syndrome to Dr. Edmond Burke and Miss Myrna Sproul for help in obtaining patients with this disease, and to Douglas M. Brown, Univ. of Utah College of Med. for molecular weight determinations. Also we are very gratefuly to the families involved who helped so graciously during this study. Finally, but not least, we thank Miss Kathryn Seymour for excellent technical assistance.