Nutritional Treatment of Inborn Errors of Metabolism
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.
Nutritional treatment for inborn errors of metabolism is considered medically necessary if the medical appropriateness criteria are met. (See Medical Appropriateness criteria below.)
Nutritional treatment for inborn errors of metabolism is considered medically appropriate if ALL of the following criteria are met:
Nutritional treatment is prescribed by a physician with a clinical nutritionist's determination of the individual's caloric/nutritional requirements (note: caloric/nutritional requirements should be specific for the individual being treated)
Appropriate diagnosis is confirmed by testing. Examples of inborn errors of metabolism may include, but are not limited to, the following:
Maple Syrup Urine Disease
Disorders of Leucine Metabolism
Glutaric Acidemia Type I
Tyrosinemia Types I and II
Urea Cycle Disorders
The individual will sustain severe health complications or will not survive without this nutritional treatment
Any specific products referenced in this policy are just examples and are intended for illustrative purposes only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available. These examples are contained in the parenthetical e.g. statement.
We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits, or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan, the express terms of the health plan will govern.
American Academy of Pediatrics Committee on Nutrition. (1994). Reimbursement for medical foods for inborn errors of metabolism. Retrieved November 9, 2018 from http://pediatrics.aappublications.org/content/pediatrics/93/5/860.full.pdf.
Camp, K., Lloyd-Puryear, M. & Huntington, K. (2012).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 Genetics Network. Management Guidelines Portal. (2013, February; updated 2016, August). Retrieved November 9, 2018 from https://southeastgenetics.org.
Tennessee Code: Title 56 Insurance: Chapter 7 Policies and Policyholders: Part 25 Mandated Insurer or Plan Options: 56-7-2505. Phenylketonuria (PKU) treatment. Retrieved November 9, 2018 from http://www.lexisnexis.com/hottopics/tncode/.
ORIGINAL EFFECTIVE DATE: 5/1/2000
MOST RECENT REVIEW DATE: 12/13/2018
Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.
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