ArticleJIMD reports2016
Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Current status in paediatric liver transplantation for inherited metabolic diseases.Journal of pediatric gastroenterology and nutrition · 2026Review
- Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.Orphanet journal of rare diseases · 2026Review
- Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation.World journal of transplantation · 2026Review
- The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.Journal of inherited metabolic disease · 2025Review
- Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.JIMD reports · 2025Article
- Letter to the Editors: Concerning "Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation" by Guilder et al.Molecular genetics and metabolism reports · 2024Article
- Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.Molecular genetics and metabolism reports · 2021Article
- Living Related Liver Transplantation for Metabolic Liver Diseases in Children.Journal of pediatric gastroenterology and nutrition · 2021Article
- Article
- Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.Metabolic brain disease · 2019Article
- Transplantation as disease modifying therapy in adults with inherited metabolic disorders.Journal of inherited metabolic disease · 2018Review
- Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Metabolic brain disease · 2018Article
- Liver transplantation from a live donor to a patient with maple syrup urine disease: Two case reports.Turk pediatri arsivi · 2018Article
- Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry.Molecular genetics and metabolism reports · 2018Article
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4 authors.
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Abstract
Maple syrup urine disease (MSUD) is an autosomal recessive disorder associated with impaired metabolism of branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Children with MSUD suffer from bouts of metabolic decompensation, which may lead to neurological damage. Liver transplantation from unrelated deceased donors has been considered curative. The natural history of the disease following transplantation using a haploidentical (obligate heterozygous) living donor is still unclear, although previously described as favorable. We describe acute metabolic crises in a 20-month-old child with MSUD type II. The first well-documented one occurred 5 months after a successful liver transplantation from his mother. The patient developed encephalopathy with progressive lethargy and seizures after an episode of gastroenteritis with dehydration. Plasma levels of leucine, isoleucine, and valine were markedly elevated and alloisoleucine was detected. He promptly responded to dialysis and BCAA-free dietetic management and subsequently could resume a normal diet. Since then he has had another symptomatic metabolic crisis with seizures. This case strongly suggests that some recipients of liver transplantation from a haploidentical parent possess limited capacity to oxidize BCAA at the time of catabolic stress and dehydration and remain at risk of severe metabolic crises. Thus, careful metabolic monitoring and prompt treatment post liver transplantation are still required to avoid neurological sequelae of MSUD, particularly if the donor is heterozygous for MSUD.
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