Journal of Pediatric Biochemistry 2012; 02(03): 163-167
DOI: 10.1055/s-0036-1586409
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses

Rosi Shwartz
a   Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
b   Department of Genetic and Metabolic Diseases, Hadassah- Hebrew University Medical Center, Jerusalem, Israel
,
Ruth N. Sheffer
a   Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
b   Department of Genetic and Metabolic Diseases, Hadassah- Hebrew University Medical Center, Jerusalem, Israel
,
Geto Mangisto
a   Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
b   Department of Genetic and Metabolic Diseases, Hadassah- Hebrew University Medical Center, Jerusalem, Israel
,
Ann Saada
a   Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
b   Department of Genetic and Metabolic Diseases, Hadassah- Hebrew University Medical Center, Jerusalem, Israel
› Author Affiliations

Subject Editor:
Further Information

Publication History

18 April 2012

11 June 2012

Publication Date:
01 August 2016 (online)

Abstract

Mucopolysaccharidoses (MPS) are a heterogeneous group of inherited lysosomal storage disorders (LSDs), due to impaired breakdown of glycosaminoglycans (GAGs), resulting from dysfunctional lysosomal acid hydrolases. Determination of urinary GAG content is a first-line screening assay for MPS. We modified and evaluated a quantitative colorimetric method based on 1,9 Dimethyl-Methylene Blue (DMB) and were able to identify seven new pediatric cases of MPS within a year and subsequently confirmed them by enzymatic analysis. In addition, three cases with borderline urinary GAG content were subsequently diagnosed with other LSDs. We monitored a child with MPS III (Sanfilippo) type C treated with genistein at a dose of 5 mg/kg/day for over a year and we found no change in urine GAG content. In conclusion: the modified DMB colorimetric method is an, accurate and convenient method for measuring urinary GAGs content and facilitates the diagnosis and monitoring of MPS.