Liver Transplantation for Classical Maple Syrup Urine Disease

Díaz, V.; Camarena, C.; Vega, A. de la; Martínez‐Pardo, Mercedes; Díaz, Carmen; López, Manuel; Hernández, Francisco Félix Clavijo; Andrés, Ane Miren; Jara, Paloma

doi:10.1097/mpg.0000000000000469

Cited by 42 publications

(27 citation statements)

References 9 publications

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“…Despite a limited number of publications to date, there are a number of series showing that LT can be considered an acceptable option in children with MSUD. Data show excellent graft and patient survival in these patients, comparable or even superior when compared with pediatric LT for liver cirrhosis . In accordance with these data, we performed 15 LTs in children or young adults with MSUD.…”

Section: Discussionsupporting

confidence: 59%

“…Data show excellent graft and patient survival in these patients, comparable or even superior when compared with pediatric LT for liver cirrhosis. (8,16) In accordance with these data, we performed 15 LTs in children or young adults with MSUD. All are alive with a functioning liver graft at a median time of 23 months after transplantation, corresponding to 100% graft and patient survival.…”

Section: Discussionmentioning

confidence: 99%

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Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

et al. 2019

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Liver transplantation (LT) has been shown to be a feasible treatment in patients with severe forms of maple syrup urine disease (MSUD). Because of a sufficient extrahepatic enzyme activity in non‐MSUD individuals, the organ of MSUD patients can be used as a domino graft. We performed a retrospective data collection of all LTs for MSUD carried out at the University Medical Center Hamburg‐Eppendorf (2016‐2018). Moreover, data from all consecutive domino LTs of the MSUD grafts either transplanted at our institution or allocated to other transplant centers were analyzed. During the study period, 15 LTs in MSUD patients were performed (12 children, 3 adults; median age, 10.9 years; range, 0.3‐26.1 years). Biliary complications occurred in 20%, and 13.3% suffered from bleeding complications. No further surgical problems occurred. At present, all MSUD patients are alive with a well‐functioning liver graft and on an unrestricted diet. In total, 14 consecutive domino LTs were performed. No surgical complications requiring intervention occurred. One patient died because of HCC relapse, and all other patients are alive with good liver graft function. In conclusion, the use of MSUD livers as domino grafts is safe and allows application of LT in MSUD patients without net extraction of a liver graft from the limited donor pool.

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Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

et al. 2019

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“…LT in citrullinemia serves to remove the ongoing risk of hyperammonemia and minimize the risk of further neurological injury, frequent hospitalizations, and dietary restrictions, while offering a potential to improve quality of life for children and their families. This scenario appears to be a paradigm for a number of other liver‐based metabolic conditions, including propionic acidemia and maple syrup urine disease …”

Section: Discussionmentioning

confidence: 99%

Liver transplantation for neonatal‐onset citrullinemia

Vara

Dhawan

Deheragoda

et al. 2018

Pediatric Transplantation

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Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, seizures, and if untreated can be fatal. Despite advances in medical therapy, neurocognitive outcomes remain suboptimal. LT has emerged as a potential management option. A retrospective single-center review identified 7 children with a median age of 1.1 years (range, 0.6-5.8) at referral. Five children presented clinically, and 2 were treated prospectively from birth due to positive family history. All patients received standard medical and dietary therapy prior to LT. The indications for LT were frequent metabolic decompensations in 4, elective in 2, and ALF in 1. The median age at LT was 2.4 years (range, 1.3-6.5). Five patients received 6 left lateral segment grafts, one a live unrelated donor left lateral segment as an APOLT graft, and one a cadaveric whole liver graft as APOLT. One child required retransplantation due to hepatic artery thrombosis. Graft and patient survival were 86% and 100%, respectively. Median follow-up is 3.1 years (range, 0.1-4.1), and the median age at follow-up is 5.5 years (range, 4.0-9.8). There have been no metabolic decompensations in 6 children, while 1 patient (with APOLT) developed asymptomatic hyperammonemia with no clinical or histological signs of liver injury, requiring additional medical therapy. Our medium-term experience following LT in citrullinemia is favorable, demonstrating a positive transformation of the clinical phenotype.

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“…We consider that a metabolic crisis due to infection and insufficient diet therapy must be avoided in these patients. This is because once a neurological disorder has developed, it is not reversible by effective liver transplantation . However, there is a problem of a high graft‐to‐recipient weight ratio (>than 5%), which is associated with complications in infants with a low body weight .…”

Section: Discussionmentioning

confidence: 99%

“…A strict low‐protein diet with a BCAA‐free formula is the first‐line management of MSUD. Early reports have described the therapeutic potential of deceased donor liver transplantation for MSUD since 2006 . Because of a shortage of organ supply, domino liver transplantation, which uses livers from donors with MSUD or other metabolic diseases for liver grafts, is used.…”

Section: Introductionmentioning

confidence: 99%

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

Takano

Ishige

Ogawa

et al. 2017

Pediatric Transplantation

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Classical MSUD is often fatal without appropriate medical interventions because of metabolic crisis. There are numerous reports suggesting the therapeutic potential of deceased donor liver transplantation for MSUD. However, the usefulness of LDLT for MSUD is unknown. We report a case of classical MSUD, which was successfully managed by LDLT from the patient's father at 1 year of age. Abnormal brain findings, which were cured with effective treatment, gradually disappeared after LDLT. The patient then developed normally. Findings from this case suggest the importance of LDLT for maintaining low leucine levels and subsequent normal neurological development. Although LDLT involves a modest surgical insult, LDLT with a related donor achieves acceptable leucine levels for life.

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Liver Transplantation for Classical Maple Syrup Urine Disease

Abstract: Liver transplantation is an effective treatment for classical MSUD that arrests brain damage, although it does not reverse the process.

Cited by 42 publications

References 9 publications

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

Liver transplantation for neonatal‐onset citrullinemia

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

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