Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example.

Mol Genet Metab 2012 Sep 16;107(1-2):3-9. Epub 2012 Jul 16.

Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA.

Medical foods and dietary supplements are used to treat rare inborn errors of metabolism (IEM) identified through state-based universal newborn screening. These products are regulated under Food and Drug Administration (FDA) food and dietary supplement statutes. The lack of harmony in terminology used to refer to medical foods and dietary supplements and the misuse of words that imply that FDA regulates these products as drugs have led to confusion. These products are expensive and, although they are used for medical treatment of IEM, third-party payer coverage of these products is inconsistent across the United States. Clinicians and families report termination of coverage in late adolescence, failure to cover treatment during pregnancy, coverage for select conditions only, or no coverage. We describe the indications for specific nutritional treatment products for IEM and their regulation, availability, and categorization. We conclude with a discussion of the problems that have contributed to the paradox of identifying individuals with IEM through newborn screening but not guaranteeing that they receive optimal treatment. Throughout the paper, we use the nutritional treatment of phenylketonuria as an example of IEM treatment.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444638PMC
September 2012
10 Reads

Publication Analysis

Top Keywords

dietary supplements
12
foods dietary
12
medical foods
12
nutritional treatment
12
errors metabolism
8
phenylketonuria example
8
inborn errors
8
newborn screening
8
treatment
6
products
5
iem
5
payer coverage
4
expensive medical
4
coverage products
4
products expensive
4
coverage
4
third-party payer
4
iem third-party
4
problems contributed
4
treatment iem
4

Similar Publications