DESCRIPTION
Phenylalanine is an essential amino acid. Dietary phenylalanine not utilized for protein synthesis is normally metabolized in the body. Deficiency of the enzyme phenylalanine hydroxylase or of its cofactor tetrahydrobiopterin causes an accumulation of phenylalanine in body fluids. Excess phenylalanine in the body fluids is toxic to brain tissue. Untreated individuals have very fair hair, eczema, and an odor of the urine and skin. Treatment consists of a diet low in phenylalanine. The goal of this treatment is to reduce phenylalanine and its metabolites in body fluids in order to prevent or minimize brain damage. A phenylketonuria (PKU) screening is routinely performed on a newborn, usually during the first week of life.
POLICY
Phenylketonuria (PKU) formula for individuals with phenylketonuria is considered medically necessary.
IMPORTANT REMINDER
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.
ADDITIONAL INFORMATION
A physician should prescribe PKU formula and PKU formulas may be purchased over the counter.
Accepted in accordance with the 1996 State mandate.
SOURCES
American Academy of Pediatrics. (2001, February). Maternal phenylketonuria. Retrieved June 2, 2008 from http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/427.pdf.
Fiege, B. & Blau, N. (2007). Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. Journal of Pediatrics, 150 (6), 627-630. (Level 1 - Independent study)
Kliegman, R. Behrman, R., Jenson, H. & Stanton, B. (Eds.). (2007). Nelson textbook of pediatrics (18th ed., pp. 529-540). Philadelphia: W. B. Saunders Company.
Koletzko, B., Sauerwald, T., Demmelmair, H., Herzog, M., von Schenck, U., Bohles, H., et al. (2007). Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: A randomized controlled trial. Journal of Inherited Metabolic Disease, 30 (3), 326-332. (Level 2 - Industry study)
Matalon, R., Michals-Matalon, K., Bhatia, G., Burlina, A. B., Braga, C., et al. (2007). Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine. Journal of Inherited Metabolic Disease, 30 (2), 153-158. (Level 3 - Industry study)
National Guidelines Clearinghouse. (2008, March). Screening for phenylketonuria (PKU): U.S. Preventive Services Task Force reaffirmation recommendation. Retrieved June 13, 2003 from http://www.guidelines.gov.
Perez-Duenas, B., Pujol, J., Soriano-Mas, C., Ortiz, H., Artuch, R., Vilaseca, M. A., et al. (2006). Global and regional volume changes in the brain of patients with phenylketonuria. Neurology, 66 (7), 1074-1078. (Level 2 - Industry study)
Poustie VJ, Rutherford P. Dietary interventions for phenylketonuria (Cochrane Review). In: The Cochrane Library, Issue 2, 2003. Oxford: Update Software.
Tennessee Code: Title 56 Insurance: Chapter 7 Policies and Policyholders: Part 25 Mandated Insurer or Plan Options: 56-7-2505. Phenylketonuria (PKU) treatment. Retrieved June 2, 2008 from http://www.legislature.state.tn.us/sitemap.htm.
ORIGINAL EFFECTIVE DATE: 7/15/1985
MOST RECENT REVIEW DATE: 7/24/2008
ID_BT
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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