ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.International journal of neonatal screening · 2022Review
- Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.Neurobiology of disease · 2022Article
- The future of newborn screening for lysosomal disorders.Neuroscience letters · 2021Article
- Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- National U.S. Patient and Transplant Data for Krabbe Disease.Frontiers in pediatrics · 2021Article
- Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.The Journal of clinical investigation · 2020Article
- A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.JIMD reports · 2020Article
- Newborn screening of mucopolysaccharidoses: past, present, and future.Journal of human genetics · 2020Review
- Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease.International journal of neonatal screening · 2020Article
- Article
- Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.JIMD reports · 2019Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
purposeNewborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool based on two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC).
methodsWe developed the tool using measures from dried blood spots of 166 normal newborns and tested it on dried blood spot measures from 15 newborns who later developed KD, 8 newborns identified as "high risk" by the New York screening protocol but were disease-free at follow-up, and 3 symptomatic children with onset before 4 years of age. The tool was developed from the (1-10
resultsKrabbe disease was predicted correctly for every patient who developed symptoms in infancy or early childhood. None of the high-risk patients were incorrectly identified as having early KD.
conclusionBivariate analysis of psychosine and GalC in newborn blood spots can accurately predict early Krabbe symptoms, control false positive rates, and permit presymptomatic treatment.
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