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 of protein. ...Show more


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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