BlueCross BlueShield of Tennessee Medical Policy Manual

Nutritional Treatment of Inborn Errors of Metabolism

DESCRIPTION

Inborn errors of metabolism are congenital disorders characterized by deficiencies or defects in vital enzymes that are needed to facilitate normal metabolism.  Although these disorders are rare, the four most commonly diagnosed disorders are phenylketonuria (PKU), maple-syrup urine disease (MSUD), tyrosinemia and homocystinuria.  All are treated with a restricted diet designed to avoid certain proteins or amino acids. 

If these disorders are left untreated, the individual (mostly infants or young children) will sustain severe health complications or die. Only a qualified physician and a clinical nutritionist familiar with inborn errors of metabolism should monitor this treatment process. This nutritional treatment may include specially formulated products based on appropriate medical evaluation and/or nutritional prescription products that can only be obtained from specialized vendors and pharmacies.

POLICY

MEDICAL APPROPRIATENESS

IMPORTANT REMINDERS

SOURCES 

Camp, K.,  Lloyd-Puryear, M. and Huntington, K. (2012, September) Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using Phenylketonuria as an example. Molecular Genetics & Metabolism, 107 (1-2), 3-9. (Level 5 evidence)

Frazier, D. M., Allgeier, C., Homer, C., Marriage, B. J., Ogata, B., Rohr, F., et al. (2014). Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Molecular Genetics and Metabolism, 112 (3), 210-217. (Level 1 evidence)

Ney, D., Stroup, B., Clayton, M., Murali, S., Rice, G., Rohr, F., & Levy, H. (2016). Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. The American Journal of Clinical Nutrition, 104, 334-345. (Level 2 evidence)

Southeast Regional NBS & Genetics Collaborative. (2013, February; updated 2016, August). MSUD nutrition management guidelines. Retrieved January 31, 2017 from https://southeastgenetics.org.

Winifred S. Hayes, Inc. Hayes Search & Summary. (2016, June; archived July 2017). Medical foods for the treatment of inborn errors of amino acid metabolism. Retrieved January 31, 2017 from www.Hayesinc.com/subscribers. (22 articles and/or guidelines reviewed)

Winifred S. Hayes, Inc. Hayes Search & Summary. (2016, June; archived July 2017). Medical foods for the treatment of non-amino acid inborn errors of metabolism. Retrieved January 31, 2017 from www.Hayesinc.com/subscribers. (11 articles and/or guidelines reviewed)

ORIGINAL EFFECTIVE DATE:  5/1/2000

MOST RECENT REVIEW DATE:  1/25/2018

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