New trends in newborn screening the example of lysosomal storage disorders

Olaf A. Bodamer, Christina Hung, Adolf Mühl

Research output: Contribution to journalReview articlepeer-review

Abstract

Newborn screening has been implemented worldwide for many different inherited disorders, including inborn errors of metabolism, endocrinopathies, hemoglobinopathies, cystic fibrosis and others.While expanded newborn screening by tandem mass spectrometry for analysis of acylcarnitine species, and amino acids is widely available, additional novel applications are currently being developed and tested. With the advent of novel treatment modalities in lysosomal storage diseases (LSD) such as bone marrow transplantation and/or enzyme replacement therapies, newborn screening for some of the LSD for example Pompe Disease, Fabry Disease, Gaucher Disease, Krabbe Disease and others has become a focus point. From a technological perspective high - throughput newborn screening for LSD may be feasible using different analytical approaches, such as the analysis of enzyme activities by fluorometric assays, tandem mass spectrometry or analysis of protein (enzyme) concentrations by protein binding assays,respectively. Routine newborn screening for Fabry and Pompe Diseases is currently been done in parts of Taiwan and for Krabbe Disease in New York State. Additional programmes are in the process of being implemented. However prior to wide spread implementation of neonatal screening programmes for LSD, strategies for confirmatory testing, treatment, follow-up care and scientific evaluation have to be defined and agreed upon at an international level.

Original languageEnglish (US)
Pages (from-to)119-121
Number of pages3
JournalPaediatria Croatica, Supplement
Volume53
Issue numberSUPPL. 1
StatePublished - 2009

Keywords

  • Lysosomal storage disorders
  • New trends
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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