title: Results of a quality assurance exercise for urinary glycosaminoglycan excretion.
abstract: Urine samples collected from four patients with a mucopolysaccharide storage disease (MPS) and two non-MPS patients were distributed to up to 33 laboratories as a test of their ability to detect abnormal glycosaminoglycan excretion. Seven national reference laboratories made a correct diagnostic assignment to all samples analysed. Qualitative turbidity and spot tests were shown to be unreliable. Failure to identify the excretion pattern occurred when reliance was placed on one-dimensional electrophoresis or thin layer chromatography as the sole method for glycosaminoglycan identification. Two-dimensional electrophoresis appeared to be the method of choice provided that staff had adequate experience in interpretation. Clinically unacceptable delays in analysis were common, with 80% of laboratories taking longer than 10 days to issue a report.
authors.affiliation: Department of Paediatric Chemical Pathology, Bristol Maternity Hospital, UK.
authors.forename: A
authors.initials: A
authors.lastname: Brimble
authors.forename: C
authors.initials: C
authors.lastname: Pennock
authors.forename: J
authors.initials: J
authors.lastname: Stone
mesh_terms: D002675:Child, Preschool; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D007223:Infant; D007753:Laboratories / Q000592:standards*; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D011237:Predictive Value of Tests; D011786:Quality Control; D006113:United Kingdom
chemical_list: D006025:Glycosaminoglycans