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. 2020 Apr 8;37(5):1866–1896. doi: 10.1007/s12325-020-01305-1
A literature review was performed to ascertain the outcomes associated with liver and or kidney transplantation in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA).
Thirty-eight papers and 32 abstracts were identified, totalling 373 patients.
Transplantation improved outcome in some patients with PA and MMA, but was also associated with appreciable mortality (14% PA, 11% MMA) and complications including cardiomyopathy, hepatic arterial thrombosis, renal failure/impairment, and viral infections.
While transplantation appears to be of some benefit in a subset of patients with PA/MMA, this approach does not provide a metabolic cure and patients remain at risk from disease-related and transplantation-related complications.
All treatment avenues should ideally be exhausted for PA/MMA before selecting transplantation.