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Related Experiment Videos

Liver transplantation in propionic acidaemia.

J M Saudubray1, G Touati, P Delonlay

  • 1Department of Paediatrics, Hopital Necker Enfant-Malades, 149 rue de Sevres, F-75743 Paris, France.

European Journal of Pediatrics
|December 22, 1999
PubMed
Summary
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Liver transplantation offers a potential solution for severe propionic acidemia (PA) cases, improving metabolic control and patient outcomes. However, careful patient selection and further research into alternative therapies are crucial for widespread application.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics
  • Transplantation Medicine

Background:

  • Severe forms of propionic acidemia (PA) present significant challenges despite advancements in dietary therapy, leading to disappointing outcomes.
  • Current management involves strict protein restriction, amino acid supplementation, and supportive therapies like L-carnitine and metronidazole, which are costly and burdensome.
  • Frequent, severe metabolic decompensations often necessitate intensive medical care, highlighting the limitations of existing treatments.

Purpose of the Study:

  • To evaluate the outcomes of orthotopic liver transplantation (OLT) in patients with severe propionic acidemia (PA).
  • To assess the potential of OLT to normalize clinical and biochemical phenotypes in PA patients.
  • To determine the current indications and future prospects for OLT in managing severe PA.

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Main Methods:

  • Retrospective analysis of 33 PA patients diagnosed over 20 years.
  • Detailed review of two patients who underwent OLT, including their pre- and post-transplant clinical courses and biochemical profiles.
  • Inclusion of a third patient who was listed for OLT but did not undergo the procedure, serving as a comparison.

Main Results:

  • Two patients with severe PA underwent OLT at ages 7 and 9, experiencing improved metabolic control.
  • One OLT recipient died post-transplant from lymphoproliferative disorder; the other is doing well at 13.5 years with moderate protein intake and carnitine supplementation.
  • A patient listed for OLT, but not transplanted, showed significant clinical improvement and normalization of growth, suggesting a potential non-surgical benefit from OLT candidacy.

Conclusions:

  • Correction of propionyl-CoA carboxylase deficiency in hepatic tissues via OLT can lead to clinical normalization and a milder biochemical phenotype in PA.
  • OLT is currently indicated for severe PA forms characterized by frequent, unexpected metabolic decompensations despite optimal dietary management.
  • Further research on long-term outcomes of OLT and exploration of alternative strategies like auxiliary OLT or hepatocyte transplantation are needed for broader application.