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The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the

Nicholas M Burgess1, Wendy Kelso1, Charles B Malpas2,3,4

  • 1Neuropsychiatry Unit, Royal Melbourne Hospital, Level 2, John Cade Building, Melbourne,, 3050, Australia.

Orphanet Journal of Rare Diseases
|January 19, 2021
PubMed

Insights

Resuming dietary control for phenylketonuria (PKU) improved cognitive function and reduced anxiety and depression in patients. Lifelong adherence to the phenylalanine-restricted diet is crucial for managing PKU

Area of Science:

  • Metabolic disorders
  • Neuroscience
  • Genetics

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder due to phenylalanine hydroxylase deficiency.
  • Untreated PKU leads to cognitive and psychiatric issues.
  • Discontinuing the phenylalanine-restricted diet can cause anxiety, depression, and cognitive decline.

Purpose of the Study:

  • To investigate the impact of resuming dietary control in adults with early-treated PKU who had ceased treatment.
  • To assess improvements in psychiatric morbidity and cognitive functioning after re-initiating dietary management.

Main Methods:

  • A prospective cohort study involving nine patients with early-treated PKU who stopped dietary control.
  • Re-initiated dietary management and monitored cognitive (Cognitive Proficiency Index - CPI) and psychiatric outcomes over 12 months.
  • Utilized General Linear Mixed Models (GLMM) to analyze changes in psychometric variables.

Main Results:

  • Resumption of dietary control was associated with improved cognitive function (CPI) over time.
  • Increased adherence to the diet correlated with reduced anxiety and depression ratings.
  • Baseline phenylalanine (Phe) levels and time off diet did not significantly correlate with cognitive function in this cohort.

Conclusions:

  • Resuming dietary control in PKU patients significantly improves cognitive function, anxiety, and depression.
  • These findings underscore the necessity of lifelong dietary management for mitigating the long-term cognitive and psychiatric consequences of PKU.
  • While raw Phe levels were not strongly associated, adherence to the diet is key for patient outcomes.
Abstract

Keywords:
AnxietyCognitive functionDepressionDietPhenylketonuriaProcessing speed

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