Authors' recommendations: The existing studies are focused on the analytical validity of the measurements of lysosomal enzymatic activities by MS/MS. The evidence available to date, demonstrates the viability of the detection of some lysosomal enzymatic activities by MS/MS using dried blood spots on paper as the source of the enzyme. A standardised method of enzyme assay for the screening of LSDs is not available, as this method is still in the optimization phase. There is no evidence on the clinical validity or clinical utility of the neonatal screening for lysosomal diseases by MS/MS. Long-term prospective studies are needed to reliably estimate the diagnostic capacity of the technology (sensitivity, specificity and predictive values). The extension of neonatal screening to the lysosomal diseases in the National Health System would represent an economic impact in the annual cost of 0.53 million euros. Extending neonatal screening to the LSDs is feasible although its potential benefit in terms of health improvement is uncertain.

Project Status: Completed

URL for project: https://www.aetsa.org/publicacion/cribado-neonatal-ampliado-de-enfermedades-lisosomales-mediante-espectrometria-de-masas/

Year Published: 2012

URL for published report: https://www.aetsa.org/download/publicaciones/antiguas/AETSA_2011-11_Cribado_lisosomales.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Andalusian Health Technology Assessment Area

Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. Innovación, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309

Contact Name: aetsa.csalud@juntadeandalucia.es

Contact Email: aetsa.csalud@juntadeandalucia.es

Copyright: Andalusian Agency for Health Technology Assessment (AETSA)