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Newborn screening for neuropathic lysosomal storage disorders.

Abstract：

:Interest in newborn screening (NBS) for lysosomal storage disorders (LSDs) has increased significantly due to newly developed enzyme replacement therapy (ERT), the need for early diagnosis, and advances in technical developments. Since the central nervous system cannot be treated by ERT, neuronopathic LSDs are generally not the primary target of NBS. An exception is Krabbe disease, in which hematopoietic stem cell transplantation before the onset of symptoms has benefits. However, NBS for LSD relies on measuring enzyme activities, so the most severely affected individuals (usually patients with neuronopathic subtypes) will be detected together with patients with less severe disease. In the near future, NBS is likely to be developed for diseases such as Gaucher, Niemann-Pick A/B, and certain mucopolysaccharidoses. The ability to predict phenotypes (neuronopathic or not) by enzyme activity and genotyping will therefore be critical for adequate patient management. This article reviews the status of LSD screening and issues concerning detection of neuronopathic LSDs by screening.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Hwu WL,Chien YH,Lee NC

doi

10.1007/s10545-010-9130-6

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

381-6

issue

4

eissn

0141-8955

issn

1573-2665

journal_volume

33

pub_type

杂志文章,评审

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