Bioanalysis · 2018
UPLC–MS/MS analysis of keratan sulfate from urine samples collected on filter paper for monitoring & follow-up of Morquio A patients.
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Auray-Blais Christiane, Collerette-Tremblay Jasmin, Lavoie Pamela
Аннотация
AIM: Since 2014, enzyme replacement therapy (ERT) has been available for treatment of Morquio A syndrome. During clinical trials, urinary keratan sulfate (KS) has been a useful biomarker and showed a marked decrease in patients on ERT, demonstrating therapy efficacy. Unfortunately, quantitative urinary KS testing is not widely available in biochemical genetics laboratories for efficient monitoring and follow-up of treated patients.
MATERIALS & METHODS: A tandem mass spectrometry methodology was devised to analyze KS disaccharides and creatinine in urine specimens collected on filter paper.
RESULTS: All Morquio A patients presented abnormal results pretreatment compared with reference values.
CONCLUSION: This collection procedure can be performed by patients at home and filter papers sent by regular mail to a specialized laboratory, facilitating follow-up of patients.
MATERIALS & METHODS: A tandem mass spectrometry methodology was devised to analyze KS disaccharides and creatinine in urine specimens collected on filter paper.
RESULTS: All Morquio A patients presented abnormal results pretreatment compared with reference values.
CONCLUSION: This collection procedure can be performed by patients at home and filter papers sent by regular mail to a specialized laboratory, facilitating follow-up of patients.