title: Living donor liver transplantation in maple syrup urine disease - Case series and world's youngest domino liver donor and recipient.
abstract: MSUD occurs due to deficiency of enzyme BCKAD required for metabolism of leucine, isoleucine, and valine leading to the accumulation of these and their ketoacids causing acute metabolic decompensation manifesting as encephalopathy or sudden death. The patient requires special protein-restricted diet to survive. As this enzyme is expressed in liver, liver transplantation has been successfully performed as a cure. We report two patients of MSUD who underwent LDLT while their livers were used as a domino graft for other biliary cirrhotic patients. A 22-month-old male child diagnosed as a case of classic MSUD underwent LDLT from an altruistic aunt as donor following which his serum leucine levels normalized on an unrestricted protein diet. His liver was used as a domino graft. A 38-month-old female child with diagnosed MSUD underwent LDLT from a swap donor, and her liver was used as a domino graft. Her DQ improved post-transplant. LDLT from non-heterozygous donors is a cure for classical MSUD. Their livers can be used as domino grafts for non-MSUD cases.
authors: Department of Pediatric Gastroenterology, Hepatology and Liver transplantation, Medanta The Medicity, Gurgaon, Haryana, India.
authors: N
authors: N
authors: Mohan
authors: Institute of Liver Transplant and Regenerative Medicine, Medanta The Medicity, Gurgaon, Haryana, India.
authors: S
authors: S
authors: Karkra
authors: Institute of Liver Transplant and Regenerative Medicine, Medanta The Medicity, Gurgaon, Haryana, India.
authors: A
authors: A
authors: Rastogi
authors: Institute of Liver Transplant and Regenerative Medicine, Medanta The Medicity, Gurgaon, Haryana, India.
authors: V
authors: V
authors: Vohra
authors: Institute of Liver Transplant and Regenerative Medicine, Medanta The Medicity, Gurgaon, Haryana, India.
authors: A S
authors: AS
authors: Soin
mesh_terms: D064591:Allografts; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007432:Intraoperative Period; D007532:Isoleucine / Q000378:metabolism; D007930:Leucine / Q000378:metabolism; D008099:Liver / Q000201:enzymology / Q000378:metabolism; D008105:Liver Cirrhosis, Biliary / Q000601:surgery*; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008297:Male; D008375:Maple Syrup Urine Disease / Q000601:surgery*; D010477:Perfusion; D011184:Postoperative Period; D057234:Preoperative Period; D012306:Risk; D066027:Transplant Recipients; D016896:Treatment Outcome; D014633:Valine / Q000378:metabolism
chemical_list: D007532:Isoleucine; D007930:Leucine; D014633:Valine
keywords: domino liver transplant; liver transplant; living donor; maple syrup urine disease; metabolic crisis; pediatric