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Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA)

Anne Tomm1, Alena G Thiele1, Carmen Rohde1

  • 1Center for Pediatric Research Leipzig, Department of Women and Child Health, Hospital for Children and Adolescents, University Hospital, Germany.

Molecular Genetics and Metabolism
|July 26, 2024
PubMed

Insights

Metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA) impacts executive functions (EFs) like reaction time and planning. Maintaining optimal phenylalanine levels throughout life is crucial for cognitive development in treated PKU/mHPA patients.

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Developmental Psychology

Background:

  • Newborn screening and early treatment have improved outcomes for phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA).
  • While IQ and academic attainment are largely normal, the effects of metabolic control on executive functions (EFs) across developmental stages remain unclear.

Purpose of the Study:

  • To investigate the relationship between metabolic control and executive functions (EFs) in patients with PKU/mHPA.
  • To determine how current and long-term phenylalanine (Phe) levels influence specific cognitive abilities.

Main Methods:

  • Executive functions were assessed in 28 continuously treated PKU/mHPA patients aged 8-17 years.
  • Metabolic control was evaluated using current Phe levels and historical data from childhood, adolescence, and lifetime.

Main Results:

  • Patients exhibited lower-than-average performance in executive functions, with significantly slower reaction times.
  • Both current and long-term elevated phenylalanine levels negatively correlated with reaction time, working memory, and planning abilities.
  • Higher phenylalanine levels during childhood and adolescence particularly impacted attention and planning skills.

Conclusions:

  • Metabolic control, encompassing current and long-term phenylalanine levels, significantly influences executive functions in PKU/mHPA patients.
  • Adolescent metabolic control is critical for maintaining attention and planning abilities.
  • These findings underscore the importance of continuous metabolic management and patient counseling regarding cognitive health.
Abstract

Keywords:
ChildrenDietary treatmentExecutive functionsMetabolic controlPhenylketonuria

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