Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease

被引:11
|
作者
Langan, Thomas J. [1 ]
Orsini, Joseph J. [2 ]
Jalal, Kabir [3 ]
Barczykowski, Amy L. [3 ]
Escolar, Maria L. [4 ]
Poe, Michele D. [4 ]
Biski, Chad K. [2 ]
Carter, Randy L. [3 ]
机构
[1] SUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
[2] New York State Dept Hlth, Newborn Screening Program, Wadsworth Ctr, Albany, NY USA
[3] SUNY Buffalo, Sch Publ Hlth & Hlth Profess, Populat Hlth Observ, Dept Biostat, Buffalo, NY USA
[4] UPMC, Childrens Hosp Pittsburgh, Program Study Neurodev Rare Disorders, Pittsburgh, PA USA
关键词
Krabbe disease; psychosine; galactocerebrosidase; newborn screening; biomarkers; NEW-YORK-STATE; TRANSPLANTATION; LEUKODYSTROPHY; MUTATIONS; PHENOTYPE; OUTCOMES; PROGRAM;
D O I
10.1038/s41436-018-0371-3
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Purpose: Newborn 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). Methods: We 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(-6 ))100% prediction region of the natural logarithms of psychosine and GalC measures, assuming bivariate normality, and their univariate normal limits. Results: Krabbe 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. Conclusion: Bivariate analysis of psychosine and GalC in newborn blood spots can accurately predict early Krabbe symptoms, control false positive rates, and permit presymptomatic treatment.
引用
收藏
页码:1644 / 1651
页数:8
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