Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

被引：54

作者：

Chuang, Wei-Lien ^{[2
]}

Pacheco, Josh ^{[2
]}

Zhang, X. Kate ^{[2
]}

Martin, Monica M. ^{[1
]}

Biski, Chad K. ^{[1
]}

Keutzer, Joan M. ^{[2
]}

Wenger, David A. ^{[3
]}

Caggana, Michele ^{[1
]}

Orsini, Joseph J., Jr. ^{[1
]}

机构：

[1] New York State Dept Hlth, Wadsworth Ctr, Albany, NY 12201 USA

[2] Genzyme Corp, Framingham, MA 01701 USA

[3] Thomas Jefferson Univ, Dept Neurol, Philadelphia, PA 19107 USA

来源：

CLINICA CHIMICA ACTA | 2013年 / 419卷

关键词：

Newborn screening; Psychosine; Krabbe; HPLC-MS/MS; ONSET; QUANTIFICATION; GENE;

D O I：

10.1016/j.cca.2013.01.017

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background: New York State has screened over 1.2 million newborns for Krabbe disease, and we identified 4 newborns with infantile Krabbe disease. In addition, 6 other newborns were identified with very low galactosylcerebrosidase (GALC) activity. Because these patients remain asymptomatic, we investigated whether psychosine levels could be a useful marker for disease. Methods: HPLC-MS/MS methodology was Used to determine the psychosine concentrations in dried blood spots (DBS) collected from the following cohorts: known Krabbe patients, screened babies that were determined to have infantile Krabbe disease, asymptomatic infants with low GALC activity, and normal controls. Results: The psychosine concentrations from the known Krabbe patients ranged from 7 to 50 ng/ml. Newborns identified by screening who were confirmed with infantile Krabbe disease ranged from 23 to 73 ng/ml. Asymptomatic individuals with low GALC activity had concentrations ranging from 1.7 to 5.7 ng/ml. Concentrations in newborns with normal GALC activity were all <3 ng/ml. Conclusions: The psychosine concentrations in DBS from confirmed infantile patients are at least four times higher than the asymptomatic newborns and nearly an order of magnitude greater than normal newborns. Further studies are needed to determine if psychosine can be used as a predictor of disease status/progression in screen positive newborns. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：73 / 76

页数：4

共 17 条

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