Living-related liver transplantation for methylmalonic acidemia: report of one case.

摘要: Methylmalonic acidemia (MMA) is an autosomal recessive disease of branched chain amino acid metabolism. The can be classified as vitamin B 12-responsive or nonresponsive type. For the type, there no curative treatment, and its prognosis usually poor. Wereport one case that had B12-nonresponsive type MMA diagnosed at 3 days age. patient received liver transplantation age 11 months. Continuous venovenous hemodialysis was performed immediately pre-and post-transplantation. attack frequency metabolic acidosis episodes decreased general condition this improved after transplantation. so, although not curative, effective management for MMA.