Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Bradford L. Therrell, Michele A. Lloyd-Puryear, Kathryn M. Camp, Marie Y. Mann

Research output: Contribution to journalReview article

42 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)14-26
Number of pages13
JournalMolecular Genetics and Metabolism
Volume113
Issue number1
DOIs
StatePublished - Sep 1 2014

Keywords

  • Costs
  • Inborn errors of metabolism
  • Incidence
  • Medical foods
  • Newborn screening
  • Nutrition

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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