Propionic Acidemia - Research Paper Example

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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
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Propionic Acidemia Propionic acidemia is 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. The condition can lead to delayed development, intellectual disability, heart problems, seizures or death. The condition results from a mutation of two genes that are PCCB and PCCA. Although the prevalence rate if the condition is relatively low at a global scale, there are populations that have higher prevalence rates. The condition is hereditary is prenatal diagnosis can help in effective management of the condition. This paper gives a detailed analysis of the condition. Keywords: Propionic Acidemia, prevalence, diagnosis Propionic Acidemia Introduction This essay discusses propionic acidemia, a hereditary disorder in which one’s body is incapable of processing specific lipids or fats and proteins. It is known as an organic acid condition that results in the abnormal accumulation of certain acids that are commonly referred to as organic acids. Irregular organic acids level in the blood (organic acidemai), tissue and urine (organic acidurai) can be highly toxic and lead to severe health complications (Vara eta l., 2011). On numerous occasions, the disorder manifests itself a few months after birth. The first symptoms of the condition include lack of energy, poor feeding, vomiting, loss of appetite and hypotonia. These symptoms can lead to serious medical complications at an advanced stage including seizures, coma, heart problems and death in the worst case. On rare occasions, the signs and symptoms of the condition may be present during childhood and go in future. Some of the patients experience delayed development and intellectual disability. When it comes to children with the onset form of propionic academia, there may be occurrence of more serious health complications that can be triggered by infections, fever or prolonged periods without food. Discussion Epidemiology 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 (Schwahn et al., 2010). 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 symptoms of the condition together with the low incidence of the condition make diagnosis of propionic acidemia very difficult. It is important to consider the family and sibling history and carefully evaluated when dealing with all inherited conditions (Berge, 2011). It is important to conduct aggressive prenatal and neonatal diagnosis. Differential diagnosis of the conditions is made up of the following disorders: Anterior circulation stroke, Aseptic meningitis, Disorders of carbohydrate metabolism, Sickle cell disease and Fabry Disease. Management and Prevention To start with, the disorder requires protein restriction and a comprehensive alkali therapy. For a child with a severe case of the condition, bicarbonate and fluid electrolytes are needed (Schwahn et al., 2010). Additionally, insulin and glucose are needed. There should be a short-term cessation ion of the protein intake. Breast-feeding should continue but at monitored levels. A liver transplant may be in order, however, a degree dietary adjustment is required. Dietary requirements are recommended although there is minimal evidence. In the long- run it is important to adjust one’s diet accordingly and keep an eye on ones diet (Vara et al., 2011). Screening for this rare condition is allowed although tests can miss this rare condition. Prenatal testing can be done to facilitate early detection. Conclusion In summary, the propionic acidemia condition has been observed to be an inherited disorder that affects the processing of certain proteins and lipids in the body. Although the condition is rare, its prevalence is higher in the populations stated earlier in the paper. The condition is hereditary is caused by a mutation of the two genes that control the enzyme that is responsible for breaking down lipids and proteins. However, early detection and management of the condition can help keep the condition in regulation. References Al-Odaib, A. N., Abu-Amaro, K. K., Ozand , P. T. & Al-Hellani, A. M . (2003). A new era for preventive genetic programs in the Arabian Peninsula. Saudi Medical Journal, 24 (11), 1168–1175. Berghe, G. V. (2011). Inborn metabolic diseases: Diagnosis and treatment. Electronic books. Fernandes, J., Sauduburay, J. & Berge, G. (2006). Inborn metabolic diseases: Diagnosis and treatment. Springer. Filipowicz, H. R., Ernst, S. L., Ashurst, C. L., Pasquali, M., & Longo N. (2008). Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Molecule Genetics Metabolism, 88(2), 123-130. Schwahn, B. C., Pieterse, L., Bisset, W. M., Galloway, P. G., & Robinson, P. H. (2010). Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. European Journal of Pediatrics 169, 133- 134. Vara, R., Turner, C., Mundy, H., Heaton, N. D., Rela, M., Mieli-Vergani, G., Champion, M., & Hadzic, N. (2011). Liver transplantation for propionic acidemia in children. Liver Transplant. 217(6), 661- 667. Read More
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