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Liver transplantation for methylmalonic acidaemia
W van't Hoff1, P J McKiernan, R A Surtees
1Biochemistry, Endocrinology and Metabolism Unit, The Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London, WC1N 1EH, United Kingdom.
Insights
Transplantation outcomes for methylmalonic acidaemia (MMA) are uncertain. While combined liver and kidney transplants show promise for end-stage renal failure, early liver transplants in children have yielded disappointing results, especially regarding neurological complications.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Methylmalonic acidaemia (MMA) is a severe inherited metabolic disorder.
- Children with severe MMA face high mortality, neurodevelopmental issues, and chronic renal failure.
Observation:
- Liver transplantation in early-onset MMA patients has shown disappointing results.
- A significant risk of neurological complications is observed post-liver transplantation.
- Combined liver and kidney transplantation has been successful in managing end-stage renal failure in MMA patients.
Findings:
- The efficacy of liver transplantation in preventing complications in early-onset MMA is questionable.
- Neurological complications remain a significant concern after liver transplantation for MMA.
- Combined liver-kidney transplantation offers a potential solution for MMA patients with end-stage renal failure.
Implications:
- The role of transplantation in managing methylmalonic acidaemia requires further investigation.
- Long-term follow-up is crucial for all MMA patients undergoing or considered for transplantation.
- Optimal management strategies for MMA, particularly in end-stage renal failure, need to be established.
Unlabelled:
The outcome for children with severe forms of methylmalonic acidaemia remains poor. Patients have recurrent episodes of metabolic decompensation; many have neurodevelopmental complications and the mortality is high. Long-term survivors develop chronic renal failure. Because of the poor prognosis, transplantation has been considered. In young patients with early onset disease, liver transplantation might prevent complications and, for those in end-stage renal failure, kidney transplantation could be combined with that of the liver. The results of liver transplantation in the early onset patients have generally been disappointing. In particular there appears to be a high risk of neurological complications. The optimal management of those in end-stage renal failure has not yet been determined although combined liver and kidney transplantation has been successful.
Conclusion:
The role of transplantation in methylmalonic acidaemia has yet to be established and follow up of all patients who are considered for transplantation is essential.