Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia

Abstract

Purpose Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent disease progression. We investigated the efficacy of living donor LT (LDLT) with a potential carrier of MMA and a small volume of graft in patients with MMA as an alternative to DDLT. Methods Of five patients (three male, two female; median age 5.7 years; range, 1.3–13.7 years), four underwent carrier LDLT, while one underwent non-carrier auxiliary LDLT. All patients received pre- and post-LT continuous renal replacement therapy and were provided with minimal restriction diet according to serum MMA level after LT. MMA levels in the serum and urine, the incidence of metabolic crisis, and clinical findings before and after LT were compared. Results The survival rate was 100% during 2.2 years of follow up period after LT. In all five cases, MMA titer in the serum after transplantation decreased with less restrictive diet. Metabolic crisis was not observed during the follow-up period. In addition, no patient showed progression of severe renal impairment requiring hemodialysis. Progression of delayed cognitive development was not observed. Social functioning with improved neuropsychiatric development was observed. Conclusion This study showed that LDLT achieved improved quality of life with less restrictive diet, therefore it could be a feasible alternative option to DDLT for the treatment of patients with MMA, even with an auxiliary LT.

The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism

“…From our patients' perspective, liver transplantation had a significant impact on their HrQoL mainly through a liberalized dietary regimen, reduced pharmacotherapy burden, less physical complaints, reduced risk of metabolic crises and tube feeding. Parents confirmed the point of view of their children, reporting positive changes in HrQoL as reported in other studies 11,14,33,34 . Interestingly no significant changes were reported in the “hospitalization” dimension, both by patients and parents.…”

“…Parents confirmed the point of view of their children, reporting positive changes in HrQoL as reported in other studies. 11,14,33,34 Interestingly no significant changes were reported in the "hospitalization" dimension, both by patients and parents. This likely reflects the need of post-LTx hospitalization (also in ICU) and, after discharge, of frequent scheduled evaluations and procedures, especially in the early post-operative period.…”