Clinical value of liver transplantation in the treatment of methylmalonic acidemia / 中华实用儿科临床杂志

ABSTRACT

Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, with the manifestation of recurrent and severe episodes of acute metabolic decompensation or a variety of long-term complications that require timely treatment.As liver transplantation (LT) developing widely, it has become an effective treatment for patients with severe MCM deficiency.Although LT does not solve the fundamental problem of gene defect, it can prolong survival, improve the quality of life of patients and reduce recurrent hospitalization rate, as well as lower urine, plasma MMA and propionyl carnitine levels and prevent metabolic stroke.After LT, the metabolism-correcting medications are still partially needed.Neurological symptoms of some patients can be alleviated but renal damage may remain irreversible.The domestic liver transplantation in the treatment of methylmalonic acidemia is being carried out, but there is still a lack of research on the effect of LT on MMA.The paper is to make a review of the clinical value of liver transplantation in the treatment of methylmalonic acidemia in recent years in hope of sharing the information on this issue with more people.