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Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood

Reinhold Feldmann1,2, Ulrike Och1, Lisa Sophie Beckmann1

  • 1Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.

International Journal of Environmental Research and Public Health
|April 27, 2024
PubMed

Insights

Sapropterin dihydrochloride improved cognitive development in children with phenylketonuria (PKU). Increased phenylalanine (Phe) fluctuations with this treatment correlated with IQ gains, suggesting improved Phe tolerance and cognitive support.

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Pediatrics

Background:

  • Phenylketonuria (PKU) is a metabolic disorder requiring strict phenylalanine (Phe) restriction.
  • Cognitive development in PKU patients is linked to Phe level control.
  • Understanding the impact of treatment on cognitive outcomes is crucial.

Purpose of the Study:

  • To assess the relationship between cognitive development and Phe level fluctuations in PKU patients.
  • To compare the effects of sapropterin dihydrochloride and a classic diet on neurocognitive performance.
  • To investigate the impact of Phe tolerance on cognitive gains.

Main Methods:

  • Neurocognitive performance and IQ were assessed in 33 early-treated PKU patients (18 on sapropterin, 15 on classic diet).
  • Blood Phe levels were monitored weekly for 26 weeks to analyze fluctuations.
  • Fluctuations were compared to baseline, and IQ was reassessed over seven years.

Main Results:

  • Patients on a classic diet showed no change in full-scale IQ.
  • Sapropterin dihydrochloride treatment led to significant IQ gains.
  • Increased Phe fluctuations in the sapropterin group correlated with greater IQ improvements.

Conclusions:

  • Sapropterin dihydrochloride enhances Phe tolerance in PKU patients.
  • Increased Phe fluctuations may indicate improved diet adherence and support cognitive development.
  • This treatment offers a promising avenue for improving cognitive outcomes in PKU.
Abstract

Keywords:
FSIQPKUblood Phe variationsgain in functionphenylalanine

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