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

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.

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

“…Despite these, when LT is successful, we and others (11,(14)(15)(16) have shown that the quality of life of the surviving patients is transformed. Acute metabolic decompensations are abolished, with a follow-up up to 21 years.…”

Auxiliary Liver Transplantation for Propionic Acidemia: A 10‐Year Follow‐Up

“…OLT for PA was first attempted in a 26-month child in 1992 in Birmingham, UK, but he died in the early postoperative period. Following this there were 10 reported cases of OLT for PA but only with partial success (15). The overall mortality rate following OLT was 36% (4/11).…”

Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia

“…Some clinics recommend avoidance of high protein foods but not a specifi c protein restriction [ 24 ]. In other cases, medical food may need to be continued if protein tolerance is less than the DRI.…”