Newborn screening for neuropathic lysosomal storage disorders.

[krabbe disease]

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 can not 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 .