Discussion: Alterations in Cellular Processes
Role of genetics
The presenting condition is a result of the inability of the body to digest specific amino acids, namely; arginine, lysine, and ornithine. Scientifically, the presenting conditions is termed Lysinuric protein intolerance (LPI). This condition has its roots in genetics as it is caused by a mutation of the SLC7A7 gene. This is an inherited condition that occurs in an autosomal manner (Kang et al., 2019).
Reasons for symptoms
The observed symptoms of edema of the extremities is because of a protein deficiency condition known as hypoalbuminemia , where blood albumin levels are too low and this causes severe irregularities within the lymphatic system due to capillary exchange that causes fluid retention. The swollen abdomen is also because of hypoalbuminemia due to ascites and a fatty liver that is enlarged (Braamskamp, Dolman & Tabbers, 2010).
Physiologic responses
Protein deficiency results in metabolic abnormalities due to cytokinines and regulatory hormones being altered as well as systemic inflammation due to fluid retention as a consequence of lymphatic malfunction. These lead to significant muscle loss (Coulthard, 2014).. Don't use plagiarised sources.Get your custom essay just from $11/page
Cells involved
The protein deficiency causes pancreas fibrosis as well as atrophic changes; the acinar cells are affected; these cells perform exocrine excretion but not islets that are responsible for the production of hormones (Coulthard, 2014)
Other factors
Other factors such as gender and age have an effect on the physiologic reactions to protein malnutrition; women are able to cope better than men as men have more muscle and would therefore waste away faster. Age also matters, with children under a year being more affected than adults (Hussein & Adam, 2015).
References
Braamskamp, M., Dolman, K., & Tabbers, M. (2010). Clinical practice. European Journal Of Pediatrics, 169(10), 1179-1185. doi: 10.1007/s00431-010-1235-2
Coulthard, M. (2014). Oedema in kwashiorkor is caused by hypoalbuminaemia. Paediatrics And International Child Health, 35(2), 83-89. doi: 10.1179/2046905514y.0000000154
Hussein, A., & Adam, D. (2015). Risk Factors of Protein Energy Malnutrition Deficiency among Children Under Five Years at Alruhal Camp-Kass Locality South Darfur State 2012 Sudan. Journal Of Bacteriology & Parasitology, 06(06). doi: 10.4172/2155-9597.1000252
Kang, E., Kim, T., Oh, A., Yum, M., Keum, C., Yoo, H., & Lee, B. (2019). Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. Journal Of Human Genetics, 64(11), 1137-1140. doi: 10.1038/s10038-019-0657-6