Abstract | OBJECTIVES: METHODS: Descriptive study of liver transplantation for MSUD between 1991 and 2012. Eight patients were transplanted. RESULTS: Indications 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. CONCLUSIONS:
Liver transplantation is an effective treatment for classical MSUD that arrests brain damage, although it does not reverse the process.
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Authors | Victoria M Díaz, Carmen Camarena, Ángela de la Vega, Mercedes Martínez-Pardo, Carmen Díaz, Manuel López, Francisco Hernández, Ane Andrés, Paloma Jara |
Journal | Journal of pediatric gastroenterology and nutrition
(J Pediatr Gastroenterol Nutr)
Vol. 59
Issue 5
Pg. 636-9
(Nov 2014)
ISSN: 1536-4801 [Electronic] United States |
PMID | 24979318
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Brain
(pathology)
- Child, Preschool
- Female
- Follow-Up Studies
- Graft Survival
- Humans
- Infant
- Isoleucine
(blood)
- Leucine
(blood)
- Liver Transplantation
(mortality)
- Male
- Maple Syrup Urine Disease
(blood, surgery)
- Quality of Life
- Survivors
(statistics & numerical data)
- Treatment Outcome
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