title: Newborn screening for lysosomal storage disorders.
abstract: Every newborn in the U.S. is screened for at least 29 disorders, where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion in newborn screening programs. Among those are several lysosomal storage disorders that have been evaluated in limited pilot studies or that are already included in a few national or international newborn screening programs. These conditions include Pompe disease, Niemann-Pick type A/B disease, Fabry disease, Krabbe disease, Mucopolysaccharidoses types I and II, and Gaucher disease. Here, we review the current state of newborn screening for these lysosomal storage disorders.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN; Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN. Electronic address: matern@mayo.edu.
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Dimitar
authors.initials: D
authors.lastname: Gavrilov
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Devin
authors.initials: D
authors.lastname: Oglesbee
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Raymond
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN; Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Piero
authors.initials: P
authors.lastname: Rinaldo
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN.
authors.forename: Silvia
authors.initials: S
authors.lastname: Tortorelli
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods / Q000639:trends; D011237:Predictive Value of Tests; D011634:Public Health; D012680:Sensitivity and Specificity; D053719:Tandem Mass Spectrometry; D014481:United States / Q000453:epidemiology
keywords: Dried blood spots; Immunoquantification; Lysosomal storage disorders; Newborn screening; Tandem mass spectrometry