Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners

Abstract

Purpose: The purpose of this article is to review literature for neurocognitive, neuropsychiatric, neurological complications associated with phenylalanine hydroxylase (PAH) deficiency. The goal is to familiarize nurse practitioners with treatment and monitoring guidelines for persons living with the disorder.

Conclusions: Appropriate treatment can maximize neurocognitive and neuropsychiatric outcomes.

Practice implications: Nurse practitioners can help persons with PAH deficiency through education and providing appropriate referrals and by supporting disease-specific treatment.

Keywords: neurocognitive complications; phenylalanine hydroxylase deficiency; phenylketonuria; psychological complications (PKU or PAH deficiency).