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Anaplerotic therapy in propionic acidemia.

Nicola Longo1, Leisa B Price2, Eduard Gappmaier3

  • 1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT, USA.

Molecular Genetics and Metabolism
|July 18, 2017
PubMed
Summary
This summary is machine-generated.

Citrate supplementation improved Krebs cycle intermediates in propionic acidemia patients, potentially reducing hospitalizations. This anaplerotic therapy showed promise for managing this rare metabolic disorder.

Keywords:
AnaplerosisClinical trialOrganic acidemiaOutcomePropionic acidemiaSodium citrate

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Clinical Nutrition

Background:

  • Propionic acidemia is a rare metabolic disorder due to propionyl-CoA carboxylase deficiency.
  • This deficiency impairs propionic acid metabolism, leading to methylcitric acid accumulation and citric acid cycle intermediate depletion.
  • Patients cannot effectively metabolize propionic acid, impacting cellular energy production.

Purpose of the Study:

  • To evaluate the efficacy of glutamine, citrate, or ornithine α-ketoglutarate as anaplerotic agents in propionic acidemia.
  • To assess the impact of these supplements on plasma amino acid levels, urinary Krebs cycle intermediates, and clinical outcomes.
  • To identify the most effective anaplerotic agent for managing propionic acidemia.

Main Methods:

  • Three patients with propionic acidemia received daily supplements of glutamine, citrate, or ornithine α-ketoglutarate for four weeks each, with washout periods.
  • The most effective supplement was administered for an extended period (30 weeks) followed by a 2-year extension.
  • Urinary excretion of Krebs cycle intermediates and plasma levels of glutamine and ammonia were monitored.

Main Results:

  • Citrate supplementation significantly increased urinary excretion of Krebs cycle intermediates (α-ketoglutarate, succinate, fumarate).
  • No significant changes in ammonia or glutamine levels were observed, but glutamate and alanine levels increased, normalizing ammonia buffering.
  • Hospitalizations decreased significantly in the 2 years following citrate supplementation compared to before and during the trial.

Conclusions:

  • Citrate acts as an effective anaplerotic agent, replenishing downstream citric acid cycle intermediates in propionic acidemia.
  • Citrate supplementation is safe and may contribute to a reduction in hospitalizations for patients with propionic acidemia.
  • Anaplerotic therapy with citrate shows potential for improving clinical outcomes in propionic acidemia.