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Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up

R Feldmann1, J Osterloh1, S Onon1

  • 1University of Münster, Department of Pediatrics, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.

Molecular Genetics and Metabolism
|January 2, 2019
PubMed

Insights

Long-term cognitive function in early-treated phenylketonuria (PKU) patients remains stable, but neurocognitive impairment is evident, especially in older adults. Maintaining dietary control during adolescence is crucial for better outcomes in PKU.

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Genetics

Background:

  • The long-term prognosis of early-treated phenylketonuria (PKU) is not fully understood.
  • This study addresses the neurological and neuropsychological outcomes in adults with early-treated PKU.

Purpose of the Study:

  • To assess the long-term neurological and neuropsychological outcomes in adult patients with early-treated PKU.
  • To evaluate cognitive performance, attention, and information processing over a ten-year period.

Main Methods:

  • 35 early-treated classical PKU patients (29-51 years) and 18 controls were assessed.
  • Intelligence quotient (IQ), attention, and information processing were evaluated.
  • Brain MRI, neuropsychological assessments, and MRI were repeated over ten years.

Main Results:

  • Cognitive functions remained stable in both patients and controls over ten years.
  • Adult PKU patients had significantly lower IQ scores than controls.
  • Older adult PKU patients (>42 years) exhibited poorer information processing and attention.

Conclusions:

  • Cognitive performance in early-treated PKU adults does not deteriorate over ten years.
  • Neurocognitive impairment is present in adult PKU patients, particularly older adults.
  • Dietary control during adolescence is beneficial for PKU patients.
Abstract

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