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Neurological deterioration in young adults with phenylketonuria

A J Thompson1, I Smith, D Brenton

  • 1Institute of Neurology, National Hospital for Nervous Diseases, London, UK.

Lancet (London, England)
|September 8, 1990
PubMed

Insights

Phenylketonuria (PKU) patients may experience neurological decline later in life, even with early treatment. Resuming a strict low-phenylalanine diet can reverse these neurological issues, suggesting lifelong adherence is crucial.

Area of Science:

  • Metabolic disorders
  • Neuroscience
  • Genetics

Background:

  • Phenylketonuria (PKU) is an inherited metabolic disorder requiring early dietary intervention.
  • Neurological disability can still manifest in adolescence or early adulthood despite infancy diagnosis and treatment.

Observation:

  • This study describes 7 patients with PKU who developed neurological disability later in life.
  • Dietary control varied, with some patients discontinuing treatment in childhood.
  • Two patients showed significant improvement upon reintroducing a strict low-phenylalanine diet.

Findings:

  • Late-onset neurological deterioration in PKU is not solely attributable to poor compliance or treatment cessation.
  • Magnetic resonance imaging revealed reversible abnormalities correlating with diet adherence.
  • Resuming dietary treatment led to clinical improvement in some patients.

Implications:

  • Lifelong strict dietary management may be necessary for some individuals with PKU to prevent late neurological complications.
  • Further research is needed to confirm these findings and establish long-term treatment guidelines.
  • This highlights the complex relationship between diet, genetics, and neurological health in PKU management.

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