The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Krabbe disease
biomarker
dried blood spot
newborn screening
psychosine
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
25
11
2019
accepted:
05
02
2020
pubmed:
25
2
2020
medline:
28
4
2021
entrez:
25
2
2020
Statut:
ppublish
Résumé
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. PSY was extracted from dried blood spots or erythrocytes with methanol containing d 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). 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.
Identifiants
pubmed: 32089546
doi: 10.1038/s41436-020-0764-y
pii: S1098-3600(21)00835-2
doi:
Substances chimiques
Psychosine
2238-90-6
Galactosylceramidase
EC 3.2.1.46
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1108-1118Références
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