Liver transplant to treat leucinosis: Report of an experience

Abstract

Introduction: Leucinosis, or maple syrup urine disease (MSUD) has a genetic feature causing deficiency in the enzyme complex and high leucine, valine and isoleucine amino acids levels, resulting in neurological deficit. Domino liver transplant (TX) in living donors is the recommended treatment, in which the liver is made available to the Central Transplant waiting list. Purpose: To report the experience at Hospital Sírio-Liban6es (HSL) in performing liver transplant in children suffering from MSUD. Methods: Study report of qualitative, descriptive and observational experience. Results: Since 2007, 213 children have been transplanted; mong them, 7 presenting MSUD 3 were transplanted. After a multidisciplinary assessment, they were enrolled in the Single Technical Record of the São Paulo Central Transplant and submitted to living donor liver transplant. Coming from the states of Amazonas and Rio de Janeiro, their ages at the time of the transplant were: 1 year and 7 months, 1 year and 11 months and 2 years and 10 months. All of them had initial suction deficit from the 5th day of life on; two children with initial PELD corrected from 1 to 3, and one child from 4 to 12, precluding activation on the list. The living donors were their relatives, two of them being the mother, and one, the father. The average hospital stay was 4 days in the UCI, and 10 days in the inpatient unit. Children who were transplanted did not have MSUD recurrence, none of the liver receptors presented relapse of the disease. Conclusion: Children suffering from MSUD were benefited by the living-donor liver transplant, and they donated their livers to other children on the waiting list. We observed that domino transplant (TX) provides no MSUD manifestation in the receptors, and the neurological deficits have a progressive improvement.