Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system.
The results of 10 years experience in urinary screening for disorders of heteroglycan metabolism are presented. Over 5,000 urines were analysed of which 216 were positive for excess mucopolysacchariduria. The enzymatic diagnosis was achieved in 159 mucopolysaccharidoses of which Type III Sanfilippo was the commonest (86 cases), followed by Type II Hunter (31 cases) and Type I Hurler (21 cases). A total of 27 urines were positive for excess oligosacchariduria, the enzymatic diagnosis being established in 20 cases. The most frequently encountered oligosaccharidosis was GM1 gangliosidosis (10 cases), followed by mannosidosis (5 cases). No cases of fucosidosis were found.
Sewell
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AC
Universitäts-Kinderklinik Mainz.
D002851:Chromatography, High Pressure Liquid; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000652:urine*
D006025:Glycosaminoglycans