Original Title: Cribado neonatal del déficit de biotinidasa

Authors' recommendations: Conclusions • The evidence on the effectiveness of biotinidase deficiency screening programmes is of low quality and is based on observational-type studies, fundamentally case series. On the basis of this information, this inborn error of metabolism would meet all the requirements for its inclusion in a screening programme. • Prior to implementing such a programme, however, an appropriate protocol would have to be drawn up that maximised the test' sensitivity and specificity, and —in particular— the analytes to be used, the specific cut-points for each population and laboratory, and, where applicable, the second-tier tests. • Lastly, information systems would have to be set up which were based on pertinent, relevant and reliable results, and made it possible to assess whether the activities or processes undertaken within the context of the screening programme were tailored to health needs, not only from a population standpoint, but also from that of the health system. Such information would serve as an aid when it came to measuring the attainment of goals, setting of priorities and taking of decisions.

Project Status: Completed

Year Published: 2014

URL for published report: https://acis.sergas.es/cartafol/2014---Neonatal-screening-for-biotinidase-deficiency

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Scientific Advice Unit, avalia-t; The Galician Health Knowledge Agency (ACIS)

Contact Address: Conselleria de Sanidade, Xunta de Galicia, San Lazaro s/n 15781 Santiago de Compostela, Spain. Tel: 34 981 541831; Fax: 34 981 542854;

Contact Name: avalia-t@sergas.es

Contact Email: avalia-t@sergas.es

Copyright: Galician Agency for Health Technology Assessment (AVALIA-T)