Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review

Pediatr Transplant. 2006 Nov;10(7):773-81. doi: 10.1111/j.1399-3046.2006.00569.x.

Abstract

Propionic acidemia is a rare metabolic disorder that often results in episodic hyperammonemia, basal ganglia infarction, mental retardation, and cardiomyopathy. OLT has been used as a treatment for propionic acidemia, but its benefit in patients with this disease is unclear. The current study was undertaken to clarify the role of OLT in the management of this disease. The medical literature, a national registry of US OLT recipients, and a single institution liver transplant experience were reviewed for cases of OLT for propionic acidemia. Accumulated cases demonstrate that OLT has resulted in clear evidence of clinical improvement in several patients, often obviating the need for dietary restriction or other forms of medical management. OLT appears to halt the decline in neurocognitive function often associated with propionic acidemia. In total, 12 patients with propionic acidemia have undergone a total of 14 OLTs. A quantitative analysis of outcomes shows an overall patient survival rate of 72.2% at one year after OLT. In conclusion, OLT should be considered a treatment option for patients with propionic acidemia who continue to experience episodes of hyperammonemia in spite of maximal medical therapy. Early OLT may limit the development of mental retardation and/or cardiomyopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / blood*
  • Amino Acid Metabolism, Inborn Errors / surgery*
  • Female
  • Follow-Up Studies
  • Graft Survival
  • Humans
  • Infant, Newborn
  • Liver Transplantation*
  • Male
  • Prognosis
  • Propionates / blood*
  • Retrospective Studies

Substances

  • Propionates