Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease

Journal of Inherited Metabolic Disease
Coleman TurgeonDietrich Matern

Abstract

Newborn screening (NBS) for Krabbe disease (KD) in New York and Missouri is conducted by measuring galactocerebrosidase (GALC) activity using tandem mass spectrometry (MS/MS). These NBS efforts have shown that the incidence of KD is unexpectedly low (1:400,000) while many individuals (ca. 1:6000) with reduced GALC activity and genotypes of uncertain significance are detected and subjected to follow up testing. Psychosine (PSY) is a putative marker of KD progression and can be measured in dried blood spots (DBS). We sought to determine the role that PSY levels play in NBS for KD, follow up, and treatment monitoring. PSY was eluted from DBS with methanol containing N,N-dimethyl-D-erythro-sphingosine as internal standard (IS). Liquid chromatography-MS/MS was conducted over 17 minutes in the multiple reaction monitoring positive mode to follow the precursor to product species transitions for PSY and IS. Separation of the structural isomers PSY and glucosylsphingosine was accomplished by hydrophilic interaction liquid chromatography. Pre-analytical and analytical factors were studied and revealed satisfactory results. PSY was also measured in DBS collected from controls (range: <8 nmol/L, N = 220), KD patients at various disease sta...Continue Reading

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Citations

Jan 23, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joseph J OrsiniUNKNOWN New York State Krabbe Disease Consortium
Apr 22, 2015·Seminars in Perinatology·Dietrich MaternSilvia Tortorelli
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Jul 29, 2018·Clinical Chemistry·Michael H Gelb
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Aug 23, 2020·International Journal of Molecular Sciences·Maryam GulAmmar Chaudhry
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Feb 25, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Adam J GuenzelDietrich Matern
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Nov 6, 2020·International Journal of Neonatal Screening·Sabrina MalvagiaGiancarlo la Marca
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Jun 3, 2021·International Journal of Neonatal Screening·Camille S CorreRobert Thompson-Stone
Sep 4, 2021·Molecular Genetics and Metabolism·Justin Mak, Tina M Cowan

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