title: Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
abstract: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services).
  
  
  
  Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis.
  
  
  
  From July 2012 to April 2016, 20,018 patients were screened; 20 patients were confirmed to have an LSD phenotype (99.9 in 100,000 newborns). Final distributions include 11 Pompe disease, five Fabry disease, two MPS-I, and two Niemann-Pick type A/B patients. We did not find any Gaucher or Krabbe patients. A final frequency of 1 in 1001 LSD newborn phenotypes was established.
  
  
  
  NBS is a major public health achievement that has decreased the morbidity and mortality of inborn errors of metabolism. The introduction of NBS for LSD presents new challenges. This is the first multiplex Latin-American study of six LSDs detected through NBS.
authors.affiliation: Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico.
authors.forename: Juana Inés
authors.initials: JI
authors.lastname: Navarrete-Martínez
authors.affiliation: General Dictatorate, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico.
authors.forename: Ana Elena
authors.initials: AE
authors.lastname: Limón-Rojas
authors.affiliation: Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico.
authors.forename: Maria de Jesús
authors.initials: MJ
authors.lastname: Gaytán-García
authors.affiliation: Department of Medical Education and Research, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico.
authors.forename: Jesús
authors.initials: J
authors.lastname: Reyna-Figueroa
authors.affiliation: General Dictatorate, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Wakida-Kusunoki
authors.affiliation: Department of Pediatrics, Hospital Regional de Villahermosa, PEMEX, Villahermosa, Tabasco, Mexico.
authors.forename: Ma Del Rocío
authors.initials: MDR
authors.lastname: Delgado-Calvillo
authors.affiliation: Genomi-k SAPI de CV. Monterrey, Nuevo León, Mexico; Escuela de Medicina Tecnológico de Monterrey, Monterrey, Nuevo León, Mexico.
authors.forename: Consuelo
authors.initials: C
authors.lastname: Cantú-Reyna
authors.affiliation: Genomi-k SAPI de CV. Monterrey, Nuevo León, Mexico; Escuela de Biotecnología y Ciencias de la Salud, Tecnológico de Monterrey, Monterrey, Nuevo León, Mexico.
authors.forename: Héctor
authors.initials: H
authors.lastname: Cruz-Camino
authors.affiliation: Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico; Facultad Mexicana de Medicina, Universidad La Salle, Mexico City, Mexico. Electronic address: david.eduardo.cervantes@pemex.com.
authors.forename: David Eduardo
authors.initials: DE
authors.lastname: Cervantes-Barragán
mesh_terms: D059788:Dried Blood Spot Testing / Q000379:methods*; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008800:Mexico / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods*; D012680:Sensitivity and Specificity; D053719:Tandem Mass Spectrometry
keywords: Fabry disease; Gaucher disease; Krabbe disease; LSD; Lysosomal storage disorder; Mucopolysaccharidosis type I; Newborn screening; Niemann–Pick A/B; Pompe disease