RT Journal Article
T1 Newborn screening for Fabry disease in the north-west of Spain
A1 Colón Mejeras, Cristóbal
A1 Ortolano, Saida
A1 Melcón Crespo, Cristina
A1 Álvarez González, José Víctor
A1 López Suárez, Olalla Elena
A1 Couce Pico, María Luz
A1 Fernández Lorenzo, José Ramón
K1 Fabry disease
K1 Newborn screening
K1 Lysosomal storage diseases
K1 Genetic variants of unknown significance
AB Fabry 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’ management
PB Springer
YR 2017
FD 2017
LK http://hdl.handle.net/10347/24189
UL http://hdl.handle.net/10347/24189
LA eng
NO Colon, 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/s00431-017-2950-8
NO This studied was founded by the Spanish National Institute of Health-Instituto Carlos III/EU-FEDER, grant no. PI11-00842, to Ortolano S. and FEEL Foundation to Cristobal Colón
DS Minerva
RD 28 abr 2026