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Quantification of psychosine (galactosylsphingosine) in dried blood spots to support the biochemical diagnosis and follow-up of individuals affected with Krabbe disease
This test is used as a second-tier newborn screen and to diagnose and monitor patients with Krabbe disease.
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disorder caused by an enzyme deficiency of galactocerebrosidase (GALC).
Although Krabbe disease is clinically variable, the most common and severe form of the disorder is early infantile onset that presents with rapid neurological regression and results in early death.
Elevations in psychosine support a diagnosis of Krabbe disease; therefore, psychosine quantitation is a useful biomarker in determining if an individual has active disease.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)