Abstract
Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.
Highlights
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that results in decreased activity of the branched-chain ketoacid dehydrogenase (BCKDH) complex, leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine
In developing countries, where there is no neonatal screening for MSUD in public healthcare, the diagnosis is usually based on a combination of clinical and biochemical findings in which high levels of leucine, isoleucine, or valine are detected in serum by quantitative methods such as high-performance liquid chromatography, but the other amino acids are in the normal or low ranges
liver transplantation (LT) was discovered as a treatment for MSUD after transplantations had been performed for nonmetabolic reasons in the first patients [5]
Summary
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that results in decreased activity of the branched-chain ketoacid dehydrogenase (BCKDH) complex, leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Since livers from MSUD patients are structurally normal, they are a source of grafts for domino liver transplantation (DLT) [4].
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More From: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
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