Phenylketonuria

Disease

1 paper3 findings

Associations

3

Cognitive function

downin humans1

1 study
  1. Phenylketonuria is associated with cognitive function in humans.

    “poorer cognitive performance alongside a higher prevalence of mood disorders and reduced quality of life, despite treatment.”

    Reviewin adults with PKU

    Mechanisms of Aging in Phenylketonuria (PKU)

    American journal of medical genetics. Part A15 Sep 2026

Bone mineral density

downin humans1

1 study
  1. Phenylketonuria is associated with bone mineral density in humans.

    “They also tend to demonstrate lower bone mineral density, more extensive white matter changes, and poorer cognitive performance alongside a higher prevalence of mood disorders”

    Reviewin adults with PKU

    Mechanisms of Aging in Phenylketonuria (PKU)

    American journal of medical genetics. Part A15 Sep 2026

Arterial stiffness

upin humans1

1 study
  1. Phenylketonuria is associated with arterial stiffness in humans.

    “Adults with PKU exhibit greater cardiovascular aging, including arterial stiffness and dyslipidaemia, alongside higher rates of obesity, diabetes, and hypertension compared to adults without PKU.”

    Reviewin adults with PKU

    Mechanisms of Aging in Phenylketonuria (PKU)

    American journal of medical genetics. Part A15 Sep 2026

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