Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease

Abstract

MSUD is a hereditary metabolic disorder that is characterized by impaired activity of the BCKADC. Liver transplantation has been approved as a treatment for some MSUD cases in which the control of BCAAs is insufficient. Although there have been several reports about DDLT for MSUD, few LDLT cases have been reported. Because either of parents who are heterozygote of this disease usually applies to be a candidate of donor in LDLT, the impairment of BCKADC activity of graft liver should be concerned. We performed LDLT for 10 month-old girl with a left lateral segment graft from her father. BCKADC activities of the patient and her parents were measured using lysates of lymphocytes isolated from peripheral blood specimen before the transplant. As a consequence, the activity of BCKADC of father was not inferior to a normal range. The patient tolerated the operation well. Postoperative course was uneventful and mixed milk was started at 8th POD. The serum BCAAs levels have remained within normal range. It should be necessary to follow the physical growth and mental development of the recipient in the future.

Successful living donor liver transplantation for classical maple syrup urine disease

“…Most patients with MSUD who have undergone LT have undergone DDLT . Our patient is only the fourth to undergo LDLT from a heterozygous parent . Recipients of heterozygous grafts may, however, experience recurrence of MSUD.…”

Liver transplantation for maple syrup urine disease: A global domino effect

“…Others have reported transplant in even younger MSUD patients or domino MSUD from even younger recipients (Mureo Kasahara, personal communication) than the cases reported by Mohan et al Indeed, transplantation in very young MSUD children may give the best opportunity for preservation of neurodevelopmental outcomes . Also, the technical challenges in domino transplantation of extremely young MSUD grafts may be mitigated by microvascular techniques, as has been reported .…”

“…MSUD has become an elegant example of liver transplantation (LT) as gene replacement for selected metabolic diseases, and while it may be the most recent metabolic condition to be phenotypically cured by LT on a relatively large scale, it certainly will not be the last . Deceased donor LT and live donor liver transplant (LDLT) were the first procedures used for patients with MSUD, but more recently, MSUD LT has expanded to include living related liver (LRLT) transplants from heterozygous donors. Furthermore, utilizing the MSUD liver as a donor organ for non‐MSUD transplant recipients highlights the use of transplant therapies in the local context: combining the issues of access to medical care, donor availability, and technical expertise to provide the best care to as many patients as possible.…”

Genetic, hematological, and immunological disorders transmissible with liver transplantation

“…LDLT was curative, although the longest follow‐up period has only been 13 months. Even with the predicted 50% of BCKAD activity in the living related donor liver, recipients were asymptomatic using unrestricted protein diets . Thus, donors with MSUD and those individuals heterozygous for MSUD appear to be suitable candidates for LT. Table summarizes recommendations for the safety of deceased and living donor transplantation in MSUD and other inheritable liver diseases.…”