Similar advances in gene therapy may provide a future cure. Accumulations of branched-chain amino acids (BCAAs) and branched-chain alpha-ketoacids (BCKAs) in patients with MSUD induce ketoacidosis, neurological disorders, and developmental disturbance. However, studies have already shown that it is possible to transfer subunits of the BCKDH enzyme into cells using a retrovirus. Maple syrup urine disease (MSUD) is caused by a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. By contrast, the disease is rare in the general population.Ĭurrently treatment consists of restricting the dietary intake of branched-chain amino acids to the absolute minimum that is needed for growth. This is due to a high carrier rate of a mutation in the E1alpha-subunit of the BCKDH complex. The Mennonite community of Lancaster County, Pennsylvania is particularly afflicted by MSUD, with over 1 of 176 individuals affected. In total, six gene loci encode for the BCKDH, and mutations in different loci are responsible for the genetic variety seen in MSUD. Yes, all of our papers are completely free from any type of errors and plagiarism. One step in this breakdown involves the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, which consists of three catalytic components and two regulatory enzymes. Case Study Of Maple Syrup Urine Disease Best Writing Service. They are an essential element in the diet and are broken down by the body to yield energy. Three amino acids have branched side chains: valine, leucine, and isoleucine. Keywords: Maple syrup urine disease, DBT gene mutation, Thiamine, Children Background Maple syrup urine disease (MSUD) is a rare meta-bolic disorder of autosomal recessive inheritance caused by decreased activity of the branched-chain -ketoacid dehydrogenase (BCKD) complex. Left untreated, there is progressive neurodegeneration leading to death within the first months of life. Because they cannot be fully broken down, they accumulate in the urine, along with their metabolites (alpha-ketoacids) to give the distinctive smell. These are amino acids that have a branched side chain. The underlying defect disrupts the metabolism of certain amino acids. Maple Syrup Urine Disease (MSUD) is an inherited disorder so named because one of its first signs is urine that has an odor reminiscent of maple syrup.
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