Gene preference in maple syrup urine disease. MSUD presents locus heterogeneity, which means that it can be caused either by mutations in BCKDHA, BCKDHB, or DBT genes or by allelic heterogeneity ( 1 1. 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. Heterozygous donor Metabolic disease Branched-chain ketoacid dehydrogenase mutation Leucine Genotype Further studies with this population of patients are required to expand the use of related donors in MSUD. 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. 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. 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. 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. The postoperative course was uneventful in all three subjects. The donor was the patient's mother, and his liver was then used as a domino graft. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The use of living related donors has been controversial because parents are obligatory heterozygotes. 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. Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids.
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