Newborn Screening for Krabbe's Disease

被引:19
作者
Orsini, Joseph J. [1 ]
Saavedra-Matiz, Carlos A. [1 ]
Gelb, Michael H. [2 ,3 ]
Caggana, Michele [1 ]
机构
[1] New York State Dept Hlth, Wadsworth Ctr, Lab Human Genet, Albany, NY 12201 USA
[2] Univ Washington, Dept Chem, Seattle, WA 98195 USA
[3] Univ Washington, Dept Biochem, Seattle, WA 98195 USA
关键词
GALC; galactocerebrosidase; tandem mass spectrometry; lysosomal storage disorder; DRIED BLOOD SPOTS; NEW-YORK-STATE; TANDEM MASS-SPECTROMETRY; LYSOSOMAL-ENZYMES; MULTIPLEX ASSAY; GALC GENE; MUTATIONS; PSYCHOSINE; DEFICIENCY; RISK;
D O I
10.1002/jnr.23781
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Live newborn screening for Krabbe's disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Missouri is similar to 1 per 500,000; however, patients who develop later-onset forms of KD may still emerge. This Review provides an overview of the processes used to develop the screening and followup algorithms. It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options for infants with early-infantile Krabbe's disease are not curative, over time treatment options should improve; in the meantime, it is essential to evaluate the lessons learned and to ensure that screening is completed in the best possible manner until these improvements can be realized. (C) 2016 Wiley Periodicals, Inc.
引用
收藏
页码:1063 / 1075
页数:13
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