Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.

ABSTRACT:

Background

Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary Phe restriction, yet long-term complete metabolic control is unachievable for many adults. High blood Phe levels or chronic Phe and intact protein restriction in the diet may lead to somatic comorbidities. A systematic literature review was conducted to evaluate somatic comorbidities experienced by adults with PKU.

Methods

Clinical and observational studies reporting somatic comorbidities experienced by individuals with PKU aged ≥ 16 years (or classified as adults) evaluating a Phe-restricted diet with or without pharmacologic therapy ver

SUBMITTER: Whitehall KB 

PROVIDER: S-EPMC11318169 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature