Successful living donor liver transplantation for classical maple syrup urine disease

Abstract

MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15-month-old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40°C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene.

Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry

“…Indeed, BCAA levels in MSUD liver transplant recipients remain approximately two-fold greater than normal [9] , and transient leucine elevations following an illness have been reported [9] . Recently, there have been reports of living donor liver transplants from parents (who are carriers of MSUD) to their affected children [16] , [17] , [18] , [19] , [20] , [21] . Although these patients may also return to a normal diet, they may still have a risk of metabolic decompensation during illness [21] .…”

Leucinosis, or maple syrup urine disease (lecture and a clinical case)

“…Примерно 10% ферментативной активности дегидрогеназного комплекса осуществляется в печени [41]. Именно поэтому для лечения классической формы лейциноза применяется трансплантация печени [42][43][44][45], хотя у большинства пациентов из-за высоких рисков постоперационных осложнений диетотерапия считается более подходящим вариантом коррекции [35,36]. Показаниями для трансплантации печени служат низкий метаболический контроль и низкое качество жизни, о чем свидетельствуют значительные психомоторные нарушения и часто развивающаяся острая метаболическая декомпенсация, требующая госпитализации [43].…”

“…Трансплантация снижает риск метаболической декомпенсации при катаболических событиях или при белковой нагрузке. Следует понимать, что трансплантация может предотвратить дальнейшие повреждения головного мозга, но не восстановит уже свершившиеся [42][43][44].…”

A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation

“…In 2014, Feier et al. reported the first case of LDLT from a related donor for treating MSUD, and successful cases then followed this report . However, the long‐term prognosis of LDLT for treating MSUD is unknown.…”