Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
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Aids in the biochemical diagnosis of Krabbe disease and saposin A cofactor deficiency
Follow-up of individuals affected with Krabbe disease
Follow-up testing after an abnormal newborn screening result for Krabbe disease
This test is not capable of identifying carriers of 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.
This test is a second-tier assay for infants who have abnormal newborn screens with reduced galactocerebrosidase (GALC) activity and can diagnose patients with Krabbe disease or saposin A cofactor deficiency.
Elevations in psychosine support a diagnosis of Krabbe disease; therefore, psychosine quantitation is a useful biomarker in determining if an individual has active disease and can aid in monitoring disease progression or treatment response.
Psychosine is also elevated in saposin A cofactor deficiency, which results in a similar clinical phenotype to Krabbe disease, but patients have normal galactocerebrosidase (GALC) activity.
The following are available in Special Instructions:
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine
-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)