The Case of Phenylketonuria

November 8, 2022 8:30 am | Published by

In a recent case study, a patient was diagnosed since birth with Phenylketonuria (PKU) a rare genetic condition, an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine comes from a person’s diet and is used by the body to make proteins. Without dietary treatment, phenylalanine can build-up in the body and if not treated it can lead to seizures, tremors, irreversible brain damage causing mental retardation, and other serious problems.

Their employee health plan denied PKU treatment from 1/1/2020 to 5/1/2020 stating, “Medical benefits are not playable for any of the following listed items 18: Over-the-counter drugs or medications, vitamins or nutritional or dietary supplements (whether or not prescribed).”

Per WAC 284-5-260:

(1) The purpose of this section is to establish the requirements and exceptions with respect to coverage for the formulas necessary for the treatment of PKU.

(2) Every group disability insurance contract, which is delivered or issued for delivery or renewed in this state on or after 9/1/1988, that insures for hospital or medical expenses shall provide coverage for the formulas necessary for the treatment of PKU.

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