María-Dolores Bóveda

Instituto de Investigación Sanitaria de Santiago

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José A. Cocho

Instituto de Investigación Sanitaria de Santiago

Cristóbal Colón

Instituto de Investigación Sanitaria de Santiago

Daisy Castiñeiras

Instituto de Investigación Sanitaria de Santiago

Paula Sánchez

Instituto de Investigación Sanitaria de Santiago

María-Eugenia Vázquez-Mosquera

Instituto de Investigación Sanitaria de Santiago

Sofía Gouveia

Instituto de Investigación Sanitaria de Santiago

María-José de Castro

Instituto de Investigación Sanitaria de Santiago

Agustin J Iglesias-Rodríguez

Instituto de Investigación Sanitaria de Santiago

María L. Couce

Complejo Hospitalario Universitario de Santiago

Cooperative Institutions

Instituto de Investigación Sanitaria de Santiago

Complejo Hospitalario Universitario de Santiago

Universidade de Santiago de Compostela

Centre for Biomedical Network Research on Rare Diseases

Centro de Investigación Biomédica en Red

Complexo Hospitalario Universitario A Coruña

Universidad de Santiago de Chile

Instituto de Salud Carlos III

Unité de recherche sur les maladies cardiovasculaires et métaboliques

Xunta de Galicia

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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

Orphanet Journal of Rare Diseases (2024)

María L. Couce María-Dolores Bóveda Daisy Castiñeiras María-Eugenia Vázquez-Mosquera Sofía Gouveia

Abstract Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass spectrometry (July 2000). This programme currently screens for 26 IEMs in dried blood and urine samples collected 24–72 h after birth. Results In its 22-year history, this programme has analysed samples from 440,723 neonates and identified 326 cases of IEM with a prevalence of 1:1351. The most prevalent IEMs were hyperphenylalaninaemia ( n = 118), followed by medium chain acyl-CoA dehydrogenase deficiency (MCADD, n = 26), galactosaemia ( n = 20), and cystinurias ( n = 43). Sixty-one false positives and 18 conditions related to maternal pathologies were detected. Urine samples have been identified as a useful secondary sample to reduce the rate of false positives and identify new defects. There were 5 false negatives. The overall positive value was 84.23%. The fatality rate over a median of 12.1 years of follow-up was 2.76%. The intelligence quotient of patients was normal in 95.7% of cases, and school performance was largely optimal, with pedagogic special needs assistance required in < 10% of cases. Clinical onset of disease preceded diagnosis in 4% of cases. The age at which first NBS report is performed was reduced by 4 days since 2021. Conclusions This study highlights the benefits of collecting urine samples, reduce NBS reporting time and expanding the number of IEMs included in NBS programmes.

Case fatality rate

Dried blood spot

10.1186/s13023-024-03204-y

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