title: Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.
abstract: Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S., many IEM are detected through state newborn screening (NBS) programs. To inform research on IEM and provide necessary resources for researchers, we are providing: tabulation of ten-year state NBS data for selected IEM detected through NBS; costs of medical foods used in the management of IEM; and an assessment of corporate policies regarding provision of nutritional interventions at no or reduced cost to individuals with IEM. The calculated IEM incidences are based on analyses of ten-year data (2001-2011) from the National Newborn Screening Information System (NNSIS). Costs to feed an average person with an IEM were approximated by determining costs to feed an individual with an IEM, minus the annual expenditure for food for an individual without an IEM. Both the incidence and costs of nutritional intervention data will be useful in future research concerning the impact of IEM disorders on families, individuals and society.
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78220, USA; National Newborn Screening and Global Resource Center, Austin, TX 78759, USA. Electronic address: therrell@uthscsa.edu.
authors.forename: Bradford L
authors.initials: BL
authors.lastname: Therrell
authors.affiliation: Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: mpuryear@acmg.net.
authors.forename: Michele A
authors.initials: MA
authors.lastname: Lloyd-Puryear
authors.affiliation: Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: campkm@od.nih.gov.
authors.forename: Kathryn M
authors.initials: KM
authors.lastname: Camp
authors.affiliation: Maternal and Child Health Bureau, Health Resources and Services Administration, Rockville, MD 20857, USA. Electronic address: mmann@hrsa.gov.
authors.forename: Marie Y
authors.initials: MY
authors.lastname: Mann
mesh_terms: D017048:Health Care Costs; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000453:epidemiology; D015997:Neonatal Screening; D062486:Public Health Surveillance; D012107:Research Design; D014481:United States / Q000453:epidemiology
keywords: Costs; Inborn errors of metabolism; Incidence; Medical foods; Newborn screening; Nutrition
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