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Related Experiment Videos

The Rett syndrome and CSF lactic acid patterns.

T Matsuishi1, F Urabe, H Komori

  • 1Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.

Brain & Development
|January 1, 1992
PubMed
Summary

Elevated lactate and pyruvate in cerebrospinal fluid (CSF) may indicate Rett syndrome (RS) etiology. CSF lactate levels correlated with hyperventilation in RS patients, suggesting a potential biomarker.

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Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Rett syndrome (RS) is a rare neurodevelopmental disorder.
  • The etiology of RS remains unclear.
  • Metabolic disturbances, particularly in lactate and pyruvate, are being investigated.

Purpose of the Study:

  • To investigate lactate and pyruvate levels in blood and CSF of girls with RS.
  • To evaluate the relationship between CSF lactate/pyruvate and clinical manifestations in RS.
  • To explore the role of pyruvate dehydrogenase complex activity and CSF citric acid intermediates.

Main Methods:

  • Measured blood and CSF lactate and pyruvate levels in seven RS patients.
  • Assessed clinical manifestations including seizures and breathing dysfunction.

Related Experiment Videos

  • Analyzed pyruvate dehydrogenase complex activity in lymphoblastoid cell lines.
  • Quantified CSF citric acid intermediates.

    • Main Results:

    • Two RS patients showed elevated CSF lactate and pyruvate with normal serum lactate.
    • Elevated CSF lactate significantly correlated with hyperventilation (P=0.048).
    • Pyruvate dehydrogenase complex activity and CSF citric acid intermediates were not significantly different from controls.

    Conclusions:

    • Elevated CSF lactate and pyruvate may be a clue to the etiology of Rett syndrome.
    • CSF lactate could serve as a potential biomarker for hyperventilation in RS.
    • Further research is needed to elucidate the role of metabolic alterations in RS pathogenesis.