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J Pediatr Genet 2017; 06(01): 051-060
DOI: 10.1055/s-0036-1593843
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Newborn Screening for Lysosomal Storage Disorders

Roy W. A. Peake
1   Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts, United States
,
Olaf A. Bodamer
2   Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, United States
3   Harvard Medical School, Boston, Massachusetts, United States
› Author Affiliations
Further Information

Publication History

09 June 2015

28 August 2015

Publication Date:
02 December 2016 (online)

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Abstract

Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditions continues to expand due to advances in screening technologies and the development of novel therapies. Consequently, some of the lysosomal storage disorders are now considered as candidates for newborn screening, although many challenges including identification of late-onset phenotypes remain. This review provides a critical appraisal of the current state of newborn screening for lysosomal storage disorders.

Keywords

dried blood spot - filter card - mass spectrometry
 

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