Similar advances in gene therapy may provide a future cure. However, studies have already shown that it is possible to transfer subunits of the BCKDH enzyme into cells using a retrovirus. 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. One step in this breakdown involves the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, which consists of three catalytic components and two regulatory enzymes. This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease (MSUD) in an 18-year-old male. They are an essential element in the diet and are broken down by the body to yield energy. Otherwise, plasma amino acid analysis is diagnostic. Three amino acids have branched side chains: valine, leucine, and isoleucine. Maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria (BCK), is an autosomal recessive inherited metabolic disorder (IMD). Intermediate MSUD can be diagnosed by tandem mass spectrometry newborn screening. Left untreated, there is progressive neurodegeneration leading to death within the first months of life. Case 1 was a 10-day-old male infant who had cyanotic episodes and recurrent generalized convulsions the odor of burned sugar from the body and urine was also noted. Because they cannot be fully broken down, they accumulate in the urine, along with their metabolites (alpha-ketoacids) to give the distinctive smell. PMID: 7904856 Abstract Two cases of maple syrup urine disease (MSUD) are reported. 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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