ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.Brain : a journal of neurology · 2023Pooled it
- Schwann Cell-Specific ATG7-Dependent Autophagy Protects Myelin in a Mouse Model of Krabbe Disease.Glia · 2026Article
- Review
- Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.Neurology. Genetics · 2026Review
- Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.Analytical and bioanalytical chemistry · 2026Article
- Caregiver-reported disease burden in Krabbe disease: evaluating outcomes of hematopoietic stem cell transplantation.Orphanet journal of rare diseases · 2026Article
- Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.American journal of medical genetics. Part A · 2025Article
- Article
- Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.Journal of clinical laboratory analysis · 2025Article
- Phospholipids, Sphingolipids, and Cholesterol-Derived Lipid Mediators and Their Role in Neurological Disorders.International journal of molecular sciences · 2024Review
- Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.Molecular genetics and metabolism · 2024Article
- Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.International journal of neonatal screening · 2024Article
- Untargeted Lipidomic Approach for Studying Different Nervous System Tissues of the Murine Model of Krabbe Disease.Biomolecules · 2023Article
- Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Molecular genetics and metabolism reports · 2023Article
- First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing.Genetics in medicine open · 2023Article
- Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
- Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.Neurobiology of disease · 2022Article
- β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients andInternational journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
24 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeNewborn 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.
methodsPSY was extracted from dried blood spots or erythrocytes with methanol containing d
resultsAnalysis 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).
conclusionThis 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.
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