Coverage of Phenylketonuria (PKU) Dietary Products

Executive Summary 

Phenylketonuria (PKU) is an inability to clear excess of the amino acid phenylalanine that, if left untreated, leads to brain dysfunction and intellectual disability. PKU is an inherited metabolic disease that is screened for in infancy in all 50 states and D.C., and is found most frequently in newborns. Variation exists between state laws mandating consistent coverage of low-phenylalanine dietary products for both private and state-run health insurances. Missouri law (RSMo § 191.331) provides for the screening of PKU at birth through fee-maintained screening programs, and for treatment via baby formula through the Metabolic Formula Program. Additional legislation has been proposed that would require health insurances to cover all PKU patients for dietary products for the disease through the age of six. 

Highlights 

• If left untreated, PKU can lead to severe intellectual disability, epilepsy, and behavioral problems.

• PKU is most often successfully treated with low phenylalanine baby formula, and treatment continues into childhood with low phenylalanine foods and dietary products. 

• Screening for PKU has resulted in modest healthcare cost savings overall, as it can avert costs such as institutionalization in mental health facilities and promote improved productivity and development. 

Limitations 

• Recommended measures for cost saving are often qualitative measures of personal development. Studies remain mixed as to which measures to use to determine total saved costs.

• While the PKU diet is effective, no alternative effective diets have been determined since experimenting with alternative diets may present ethical concerns over safety and risk of mental decline.