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Quantification of glucopsychosine (glucosylsphingosine) in dried blood spots supports the biochemical diagnosis of Gaucher disease
May aid in monitoring a patientâ€™s response to treatment
This test is used as a second-tier newborn screen and to diagnose and monitor patients with Gaucher disease.
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of beta-glucosidase activity.
There are 3 described types of Gaucher disease with varying clinical presentations and age of onset from a perinatal lethal disorder to an asymptomatic type.
Glucopsychosine is elevated in symptomatic patients and supports a diagnosis of Gaucher disease.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)