https://pubmed.ncbi.nlm.nih.gov/34153280/
J Pediatr. 2021 Jun 18;S0022-3476(21)00558-8.
doi: 10.1016/j.jpeds.2021.06.028.Online ahead of print.

Metabolic Control and 'Ideal' Outcomes in Liver Transplantation for Maple Syrup Urine Disease

Caroline B Ewing 1, Kyle A Soltys 2, Kevin A Strauss 3, Rakesh Sindhi 2, Jerry Vockley 4, Patrick McKiernan 5, Robert H Squires 5, Geoffrey Bond 2, Armando Ganoza 2, Ajai Khanna 2, George V Mazariegos 2, James E Squires 6

Objectives: To assess outcomes following liver transplantation for maple syrup urine disease (MSUD) by determining attainment and sustainability of metabolic control and apply an 'ideal' outcome composite in long-term survivors.

Study design: Single center, retrospective review collected clinical data including branched-chain amino acid (BCAA, leucine [LEU], isoleucine [ISO], and valine [VAL]) levels following liver transplant and determined achievement of an ideal long-term outcome profile of a first allograft stable on immunosuppression monotherapy, normal growth, and absence of common transplant-related sequelae.

Results: Of 77patients meeting inclusion criteria identified, 23 were long-term (≥10-year) survivors and were additionally assessed for ideal outcome attainment. Patient and graft survival were 100% and 99% respectively and all patients were on an unrestricted protein intake diet. Although significant variation was noted in mean ISO (P < .01) and LEU (p<0.05) levels post-LT, no difference was seen in VAL (p=0.29) and overall clinical impact was likely negligible as metabolic stability was achieved and sustained beyond 3 years post-LT and no metabolic crises were identified. Of 23 long-term survivors with available data, 9 (39%) achieved all composite metrics determined to define 'ideal' outcomes in pediatric post-LT populations.

Conclusions: Liver transplant enables long-term metabolic stability for patients with MSUD. A combination of experience and improvement in both pre- and post-LT care has enabled excellent survival and minimal co-morbidities following transplant.