• Victoria M Díaz, Carmen Camarena, Ángela de la Vega, Mercedes Martínez-Pardo, Carmen Díaz, Manuel López, Francisco Hernández, Ane Andrés, and Paloma Jara.
• *Centro de Salud Puerta Bonita †Hepatology Department, Hospital Infantil La Paz ‡Pediatric Department, Hospital Ramón y Cajal §Pediatric Surgery Department, Hospital Infantil La Paz, Madrid, Spain.
• J. Pediatr. Gastroenterol. Nutr. 2014 Nov 1; 59 (5): 636-9.

ObjectivesThe aim of the study was to evaluate indications, results, and clinical and neurological evolution in children who have undergone liver transplantation for classical maple syrup urine disease (MSUD).MethodsDescriptive study of liver transplantation for MSUD between 1991 and 2012. Eight patients were transplanted.ResultsIndications for transplant were poor metabolic control expressed as significant psychomotor disabilities (4 had psychomotor delays, 5 had spasticity, and 5 had epilepsy) and poor quality of life (mean number of acute metabolic decompensations and mean number of total hospitalizations before transplantation 5 and 12, respectively). Four required nasogastric tube, with a maximum 4 g/day protein-restricted diet in all of them. Seven sustained significant alterations in brain magnetic resonance imaging. Mean leucine and alloisoleucine levels were 608 (standard deviation [SD] 516) and 218 μmol/L (SD 216), respectively. All of the patients received transplants with deceased-donor livers, with ages between 1.5 and 2.5 years (mean 1.78 years). Mean posttransplantation follow-up period was 12.2 years (range 5-21 years). Final patient and graft survival was 87.5% and 75%, respectively. Following transplantation, none required hospitalization in the last 3 years nor did any have new acute metabolic decompensations following a normal diet. Five followed normal schooling, 2 had motor disabilities, and 2 had convulsive crises. Brain magnetic resonance imaging was taken in 4 patients, showing neuroimage improvement in 3 of them. Mean leucine levels were <350 μmol/L from the immediate posttransplantation period (mean 225 μmol/L, SD 78), with a maximum alloisoleucine level of 20 μmol/L.ConclusionsLiver transplantation is an effective treatment for classical MSUD that arrests brain damage, although it does not reverse the process.

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