The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
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2020-06
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Abstract
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Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity has poor specificity for KD. Psychosine (PSY) was proposed as a disease marker useful to reduce the false positive rate for NBS and for disease monitoring. We report a highly sensitive PSY assay that allows identification of KD patients with minimal PSY elevations.Methods
PSY was extracted from dried blood spots or erythrocytes with methanol containing d5-PSY as internal standard, and measured by liquid chromatography-tandem mass spectrometry.Results
Analysis of PSY in samples from controls (N = 209), GALC pseudodeficiency carriers (N = 55), GALC pathogenic variant carriers (N = 27), patients with infantile KD (N = 26), and patients with late-onset KD (N = 11) allowed for the development of an effective laboratory screening and diagnostic algorithm. Additional longitudinal measurements were used to track therapeutic efficacy of hematopoietic stem cell transplantion (HSCT).Conclusion
This study supports PSY quantitation as a critical component of NBS for KD. It helps to differentiate infantile from later onset KD variants, as well as from GALC variant and pseudodeficiency carriers. Additionally, this study provides further data that PSY measurement can be useful to monitor KD progression before and after treatment.Type
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Guenzel, Adam J, Coleman T Turgeon, Kim K Nickander, Amy L White, Dawn S Peck, Gisele B Pino, April L Studinski, Vinod K Prasad, et al. (2020). The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genetics in medicine : official journal of the American College of Medical Genetics, 22(6). pp. 1108–1118. 10.1038/s41436-020-0764-y Retrieved from https://hdl.handle.net/10161/24566.
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Scholars@Duke

Vinod K. Prasad
1. Expanding the role of umbilical cord blood transplants for inherited metabolic disorders.
2. Impact of histocompatibility and other determinants of alloreactivity on clinical outcomes of unrelated cord blood transplants.
3. Studies to analyse the impact of Killer Immunoglobulin receptors on the outcomes of hematopoietic stem cell transplantation utilizing haploidentical, CD34 selected, familial grafts.
4. Propective longitudinal study of serial monitoring of adenovirus in allogenic transpants(SMAART)patients.
5. Use of mesenchymal stem cells for the treatment of GVHD
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