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

Mol Genet Metab 2014 Sep-Oct;113(1-2):14-26. Epub 2014 Jul 16.

Maternal and Child Health Bureau, Health Resources and Services Administration, Rockville, MD 20857, USA. Electronic address:

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177968PMC
June 2015
23 Reads

Publication Analysis

Top Keywords

newborn screening
12
iem
11
iem detected
8
nutritional interventions
8
individual iem
8
costs feed
8
costs nutritional
8
inborn errors
8
errors metabolism
8
costs
5
cost individuals
4
reduced cost
4
resources researchers
4
policies provision
4
provision nutritional
4
interventions reduced
4
individuals iem
4
based analyses
4
analyses ten-year
4
incidences based
4

Similar Publications