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Developmental disorder associated with increased cellular nucleotidase activity

T Page1, A Yu, J Fontanesi

  • 1Department of Neurosciences, University of California at San Diego, La Jolla, CA 92093, USA. tpage@ucsd.edu

Proceedings of the National Academy of Sciences of the United States of America
|October 23, 1997
PubMed
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This study identifies a novel syndrome linked to increased nucleotide catabolism. Supplementation with uridine significantly improved developmental delay, seizures, and behavioral issues in affected patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Describes a rare syndrome with developmental delay, seizures, ataxia, recurrent infections, and behavioral issues.
  • Metabolic testing revealed persistent hypouricosuria but no other unusual metabolites.

Observation:

  • Fibroblast studies showed decreased uridine incorporation and de novo purine synthesis.
  • Elevated cytosolic 5'-nucleotidase activity was observed in patients.
  • No specific enzyme deficiencies were identified in fibroblast lysates.

Findings:

  • Increased nucleotide catabolism and decreased pyrimidine salvage are implicated in the syndrome's pathogenesis.
  • Oral pyrimidine nucleoside/nucleotide supplementation led to remarkable clinical improvement.
  • A double-blind placebo trial confirmed the efficacy of uridine supplementation.

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Implications:

  • Suggests a link between elevated nucleotide catabolism and the observed neurodevelopmental and behavioral symptoms.
  • Highlights the therapeutic potential of uridine supplementation for this specific metabolic disorder.
  • Provides a basis for further research into nucleotide metabolism disorders and their treatment.