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Propionic Acidemia - Research Paper Example

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Propionic Acidemia

The research paper "Propionic Acidemia" talks about a hereditary disorder that affects the breakdown of proteins and fats in the body. The major symptoms of the condition include lack of energy, poor feeding, vomiting, loss of appetite and hypotonia and can lead to delayed development or death. The prevalence of the condition is relatively low in the US as the condition affects one out of every 100 000 people. Other forms of the condition are widespread as the incidence rate can be one case in a group of 18000 individuals. The occurrence of the condition is higher in other populations globally including Saudi Arabians, Amish communities and the Inuit population in Greenland. For instance, in Saudi Arabia, the prevalence rate can be as high as one out of 2,000 to 5,000 births. Nonetheless, most cases are not reported or diagnosed so the prevalence rates may be higher than expected. In addition to, it is not easy to assess the level of occurrence resulting from spontaneous mutation. Propionic acidemia is caused by a mutation in the PCCB and PCCA genes that control the functions of the propionyl-CoA carboxylase enzyme that plays an important role in the regular break down of proteins. In particular, the enzyme helps in the breakdown of amino acids that are building blocks of proteins. In addition to, it involved in the breakdown of specific types of cholesterol and fats in the body. A mutation in these genes alters the normal functioning of the enzymes and this, in turn, influences the breakdown

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of protein....
Occurrence of the condition is higher in other populations globally including Saudi Arabians, Amish communities and the Inuit population in Greenland. For instance, in Saudi Arabia the prevalence rate can be as high as one out of 2,000 to 5,000 births (Al-Odaib et al., 2003). Nonetheless, most cases are not reported or diagnosed so the prevalence rates may be higher than expected. In addition to, it is not easy to assess the level of occurrence resulting from spontaneous mutation. Genes associated with propionic academia Propionic academia is caused by a mutation in the PCCB and PCCA genes that control the functions of the propionyl-CoA carboxylase enzyme that plays an important role in the regular break down of proteins (Fernandes et al., 2006). In particular, the enzyme helps in the breakdown of amino acids that are building blocks of proteins. In addition to, it involved in the breakdown of specific types of cholesterol and fats in the body. A mutation in these genes alters the normal functioning of the enzymes and this in turn influences the breakdown of protein and fat molecules in the body. Consequently, this causes the accumulation of propionyl-CoA and other harmful substances in high and toxic levels (Filipowicz et al., 2008). This accumulation has adverse effects such as damage of the nervous system and the brain and other health conditions linked with Propionic Acidemia. The condition is hereditary and is caused by inheritance in a recessive pattern that that both genes that are responsible for the conditions have mutations. The parents of children with the condition carry one mutated gene by fail to show the signs and symptoms of propionic academia. Differential diagnosis The non- specific signs and

Summary

This research paper talks about a hereditary disorder that affects the breakdown of proteins and fats in the body. The major symptoms of the condition include lack of energy, poor feeding, vomiting, loss of appetite and hypotonia and can lead to delayed development or death…
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Propionic Acidemia essay example
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