Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant

Liver transplant is a treatment option for patients with MMA-emia. While this therapy does not bring about a complete cure, it is expected to prolong survival and improve the QOL of patients. The aim of this study was to evaluate the significance of LDLT for patients with MMA-emia in Japan. Clinical information on 13 patients with MMA-emia who underwent LDLT was acquired using a self-developed questionnaire sent to the doctors who provided medical care to patients with MMA-emia after LDLT. Almost all of the patients continued on a protein-restricted diet, and the number of acidosis attacks had significantly decreased. Physical growth had recovered to within the normal range by 2.5 years after LDLT, especially in patients who underwent LDLT before the age of 1 year. The average propionyl carnitine (C3) level had significantly decreased after LDLT, and the DQs had not worsened. Liver transplant should be performed for MMA-emia in early life. This can be expected to maintain neurological development and improve the growth and QOL of patients. However, LDLT is not a curative treatment for MMA-emia. A protein-restricted diet should be continued, and renal function should be monitored closely, with consideration of a renal transplant.