PMID: 2110043Feb 1, 1990Paper

Selective urinary screening for mucopolysaccharidoses

Clinical Biochemistry
P P DembureL J Elsas

Abstract

Two methods for analysis of urinary glycosaminoglycans (GAGs) have been modified and improved for efficient screening of mucopolysaccharidoses. Urinary excretion of GAGs was estimated by spectrophometric measurement of alcian blue complex formation and was used in conjunction with qualitative analysis by thin layer chromatography. After normal variation in GAG excretion was established using 120 urine samples, these screening methods were applied to a total of 2057 urine samples over 4 years. Six patients with abnormal urinary GAG excretion had a mean of 50.5 +/- 20.6 mg GAG/mmol creatinine compared to 3.4 +/- 2.9 for age-matched controls. Qualitative analysis by thin layer chromatography using alternating solvent systems identified the GAGs excreted in excess and facilitated selection of specific enzyme assays for final confirmation. Six cases were diagnosed prospectively and demonstrate these quantitative and qualitative methods to be economical, efficient, and suitable for clinical use.

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Citations

Jun 11, 2002·Biochemical and Biophysical Research Communications·Carla Beeber, Fred J Kieras
Jun 14, 2005·Neurobiology of Disease·Tehila Mayer-SonnenfeldRuth Gabizon
Jul 1, 1991·Journal of Child Neurology·M HarbordJ T Clarke
Apr 16, 2019·Genetics and Molecular Biology·Ana Carolina Brusius-FacchinSandra Leistner-Segal
May 1, 1994·Annals of Clinical Biochemistry·J G de JongR A Wevers

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