Colón Mejeras, CristóbalOrtolano, SaidaMelcón Crespo, CristinaÁlvarez González, José VíctorLópez Suárez, Olalla ElenaCouce Pico, María LuzFernández Lorenzo, José Ramón2021-01-142021-01-142017Colon, C., Ortolano, S., Melcon-Crespo, C. et al. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr 176, 1075–1081 (2017). https://doi.org/10.1007/s00431-017-2950-8http://hdl.handle.net/10347/24189Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing. We detected one patient with a mutation in GLA associated with classical Fabry Disease (M290I), ten subjects carrying genetic variants of uncertain diagnosis (S126G, R118C, A143T), and a girl with the non-characterized variant F18Y, which was not previously described. Additional 25 samples presented nucleotide substitutions described as polymorphisms (D313Y, rs2071225, and rs2071397). The estimated prevalence for Fabry disease in north-western Spanish males is of 0.013%. Conclusion: These results confirm that the prevalence of Fabry disease is underestimated and systematic screening is feasible; however, further characterization of variants of uncertain clinical significance is necessary to establish protocols of patients’ managementeng© The Author(s) 2017. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were madehttp://creativecommons.org/licenses/by/4.0/Fabry diseaseNewborn screeningLysosomal storage diseasesGenetic variants of unknown significancejournal article10.1007/s00431-017-2950-81432-1076open access