09-16-2013, 01:58 PM
The word metabolism refers to all the biochemical reactions and pathways that take place inside the living organism. The enzymes play a critical role in a lot of metabolic processes and any alteration in their function, due to any genetic mutation, can result in malfunctioning pathways. Genetic defect that hinders the functioning of any of the key metabolic pathways is referred to as an inborn error of metabolism or congenital if it is present from birth.
Maple Syrup Urine Disease or MSUD is a harmful metabolic disorder and the individual with it has an altered mode of breaking down the three amino acids, namely isoleucine, leucine and valine. The three amino acids are usually broken down by a complex of six proteins that act collectively called as BCKD (that is Branched Chain Alpha- Keto Acid Dehydrogenase). Individuals who possess the MUSD mutation have a deficiency in any one of the six proteins that form the BCKD complex and therefore are not able to break down the three amino acids isoleucine, leucine and valine. This results in the elevated levels of accumulation of the three amino acids in the blood causing the speedy degeneration of brain cells and eventually death if untreated. In majority of the cases, the defect is a result of mutation in a gene that is present on the chromosome 19.Children who have the maple syrup urine disease are also not able to metabolize these amino acids. The build up of the amino acids and certain bi- products causes neurologic disorders such as seizures and mental disability. The accumulations cause body fluids, such as urine, to smell like unique sweet odour as a maple syrup.
Tyrosinemia is a metabolic error as a result of deficiency of an enzyme that is essential for the metabolism of the amino acid tyrosine. The common form of this metabolic disorder affects the vital organs such as the kidneys and the liver. Children having tyrosinemia are incapable of metabolizing tyrosine completely. Accumulation of the bi- products of the amino acid tyrosine results in a wide variety of symptoms. The disorder Tyrosinemia is inherited in an autosomal recessive manner and it can be detected in the newborns with the aid of screening tests.
Maple Syrup Urine Disease or MSUD is a harmful metabolic disorder and the individual with it has an altered mode of breaking down the three amino acids, namely isoleucine, leucine and valine. The three amino acids are usually broken down by a complex of six proteins that act collectively called as BCKD (that is Branched Chain Alpha- Keto Acid Dehydrogenase). Individuals who possess the MUSD mutation have a deficiency in any one of the six proteins that form the BCKD complex and therefore are not able to break down the three amino acids isoleucine, leucine and valine. This results in the elevated levels of accumulation of the three amino acids in the blood causing the speedy degeneration of brain cells and eventually death if untreated. In majority of the cases, the defect is a result of mutation in a gene that is present on the chromosome 19.Children who have the maple syrup urine disease are also not able to metabolize these amino acids. The build up of the amino acids and certain bi- products causes neurologic disorders such as seizures and mental disability. The accumulations cause body fluids, such as urine, to smell like unique sweet odour as a maple syrup.
Tyrosinemia is a metabolic error as a result of deficiency of an enzyme that is essential for the metabolism of the amino acid tyrosine. The common form of this metabolic disorder affects the vital organs such as the kidneys and the liver. Children having tyrosinemia are incapable of metabolizing tyrosine completely. Accumulation of the bi- products of the amino acid tyrosine results in a wide variety of symptoms. The disorder Tyrosinemia is inherited in an autosomal recessive manner and it can be detected in the newborns with the aid of screening tests.
![[+]](https://www.biotechnologyforums.com/images/netpen-pro/collapse_collapsed.png)