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THE COST OF MEDICAL FOOD FOR CHILDREN WITH PHENYLKETONURIA

NURSE 9080 Healthcare Policy Project

By: Mary Baker

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Problem: Insurance coverage of metabolic formulas for school-aged children diagnosed with PKU.
Affect: This policy personally affects individuals and families, which overall impacts public health.
Topic Question: What are the Medicaid insurance policies in South Carolina regarding the PKU metabolic formula for school-aged children? How do these policies affect accessibility to treatment?

Introduction

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What is PKU?

PKU is a genetic mutation that changes the sequence of the phenylalanine hydroxylase enzyme.¹

How is PKU diagnosed?

PKU is an inborn error of metabolism and is diagnosed through the newborn screen.¹

What are the treatment options for individuals with PKU?

Lifelong low-protein diet, PKU formula, PKU medications.²

What happens when PKU is untreated?

It can lead to seizures, intellectual disabilities, and neurocognitive defects.³

Why is medical food?

USFDA Definition: “a food which is formulated to be consumed or administered enterally under the supervision of a physician, and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation.”⁴

PKU Diagnosis & Treatment

1. Phenylketonuria: MedlinePlus Genetics. (2017, October 1). Medlineplus.gov. https://medlineplus.gov/genetics/condition/phenylketonuria/#causes

2. Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2024, January 16). What are common treatments for phenylketonuria (PKU)? National Institutes of Health. https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

3. Rose, A. M., Grosse, S. D., Garcia, S. P., Bach, J., Kleyn, M., Simon, N.-J. E., & Prosser, L. A. (2019). The financial and time burden associated with phenylketonuria treatment in the United States. Molecular Genetics and Metabolism Reports, 21, Article 100523. https://doi.org/10.1016/j.ymgmr.2019.100523

4. U.S. Food and Drug Administration. (2023, March 2). Medical foods guidance documents & regulatory information. https://www.fda.gov/food/guidance-documents-regulatory-information-topic-food-and-dietary-supplements/medical-foods-guidance-documents-regulatory-information

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Review of Literature

The American Academy of Pediatrics recommends that all medical foods and formulas be covered by insurance for all individuals diagnosed with an inborn error of metabolism.¹
South Carolina has no insurance mandate for formula and food coverage.²
Financial and time burden of families with PKU.³
There is no alternative to treatment other than diet modification.⁴

Current Policy

Enteral Nutrition in the Home - CAM 1114HB⁵

Key Stakeholders

Individuals with PKU
Families of children with PKU
PKU Medical Team
South Carolina Medicaid

Background

1. Berry, S. A., Brown, C. S., Greene, C., Camp, K. M., McDonough, S., Bocchini, J. A., Jr., & the Follow-up and Treatment (FUTR) Workgroup for the Advisory Committee on Heritable Disorders in Newborns and Children. (2020). Medical foods for inborn errors of metabolism: History, current status, and critical need. Pediatrics, 145(3), Article e20192261. https://doi.org/10.1542/peds.2019-2261

2. Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2000). Phenylketonuria (PKU) screening and management: Report of the NIH Consensus Development Conference (Section 8: Survey of states: Summary of response by 40 states on mandates for coverage of foods and formula, availability of subspecialty services, and enforcement of HIPAA). U.S. Government Printing Office. https://www.nichd.nih.gov/sites/default/files/publications/pubs/pku/Documents/sub86.pdf

3. Rose, A. M., Grosse, S. D., Garcia, S. P., Bach, J., Kleyn, M., Simon, N.-J. E., & Prosser, L. A. (2019). The financial and time burden associated with phenylketonuria treatment in the United States. Molecular Genetics and Metabolism Reports, 21, Article 100523. https://doi.org/10.1016/j.ymgmr.2019.100523

4. EveryLife Foundation for Rare Diseases. (2021). How coverage of medical foods for inborn errors of metabolism can save lives & costs. https://everylifefoundation.org/wp-content/uploads/2021/02/One-Pager-Coverage-of-Medical-Nutrition.pdf

5. South Carolina BlueCross BlueShield. (2026, June 1). Enteral nutrition in the home (CAM 1114HB). https://www.southcarolinablues.com/web/public/brands/medicalpolicyhb/external-policies/enteral-nutrition-in-the-home/

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Method of Analysis

(Masselink et al., 2021)

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Federal Level:

Adopt universal coverage of medical food and metabolic formulas by passing the Medical Nutrition Equity Act.¹

State Level:

Amendment to the Enteral Nutrition in the Home - CAM 1114HB to remove caloric intake requirement.

Barriers:

Cost
Time

Recommendations

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Nursing Implications:

Education: Social Determinants of Health
Practice: Address the family’s finances and redirect to appropriate resources, and advocate for increased coverage.
Research: Alternative treatment options, including gene therapy.

Limitations:

Small percentage of population affected.
Limited knowledge about PKU.

Discussion

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There is an ethical dilemma that Medicaid does not cover medical food and metabolic formula for every individual diagnosed with PKU in South Carolina.
The current policy for Medicaid will only cover the formula if the formula accounts for 50% of caloric intake.
In order to better promote equitable access, providers can advocate for the federal passing of the Medical Nutrition Equity Act or amending our state policy.

Conclusion

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REFERENCES