Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease
| Autor: | Patricia K. Duffner, Karen A. Sanders, Piero Rinaldo, Thomas J. Langan, Maria L. Escolar, Silvia Tortorelli, Dietrich Matern, Coleman T. Turgeon, Dimitar Gavrilov, Joseph J. Orsini, Mark J. Magera, Devin Oglesbee, Kimiyo Raymond |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
medicine.medical_specialty Pathology Adolescent medicine.medical_treatment Hematopoietic stem cell transplantation Tandem mass spectrometry Gastroenterology Young Adult Neonatal Screening Limit of Detection Reference Values Internal medicine Genotype Genetics medicine Humans Child Genetics (clinical) Aged Newborn screening Spots business.industry Galactocerebrosidase Selected reaction monitoring Infant Newborn Psychosine Infant Reproducibility of Results Middle Aged medicine.disease Quality Improvement Leukodystrophy Globoid Cell Child Preschool Krabbe disease Dried Blood Spot Testing business |
| Zdroj: | Journal of Inherited Metabolic Disease. 38:923-929 |
| ISSN: | 1573-2665 0141-8955 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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