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Methylmalonic Acidemia

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Methylmalonic Acidemia – It is an inherited disorder that emanates from the parents to the child attracting complete sophistication within the child’s metabolic pathway. Statistics assert that the disease is widely covering the globe though it affects approximate 70 people among 20, 000 in a country. Information asserts that infants are associated with several symptoms. They entail brain disease which keeps on worsening, dehydration where a person loses a lot of water from the body where such a platform sophisticates the condition (Whelan et al, 1979). Further, they endure vomiting, fatigue, weakness within the muscles, and inability to extend their weight. Further, it has been witnessed that the infants face potential complications where the liver declines its functionality.
The approach exposes an infant to a feeding problem where he or she is not able to engage in nutrition as perceived for good health to be realized. Further, the disease manipulates intellectual disabilities and chronic disease, for instance, kidney failure where the process of excretion is withheld (Veer & Moreno, 2013). Finally, the disease undermines the pancreas where it is not able to engage inflammation providing a loophole for extreme infections. Information indicates that it is genetically enhanced to the child where the parents are carriers of the particular chromosomes which insight infection. In a more critical review, it establishes as a result of gene mutation. Investigations within the medical facilities have asserted that 70% of the insight emanates from MUT gene mutation (Dobson et al, 2002).

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The physicians in hospitals control the disease in a certain platform where they recommend diets with low protein in order to absorb the disease. Further, they embrace carnitine supplements to enhance metabolism. Finally, the physicians engage liver transplantation with an aim of upholding its functions where the infant’s lifespan is supported.

Dobson, C. M., Wai, T., Leclerc, D., Wilson, A., Wu, X., Doré, C., … & Gravel, R. A. (2002). Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proceedings of the National Academy of Sciences, 99(24), 15554-15559.
Iglesia, I., Dhonukshe-Rutten, R. A., Bel-Serrat, S., Doets, E. L., Cavelaars, A. E., van‘t Veer, P., … & Moreno, L. A. (2013). Association between vitamin B12 intake and EURRECA’s prioritized biomarkers of vitamin B12 in young populations: a systematic review. Public health nutrition, 16(10), 1843-1860.Whelan, D. T., Ryan, E., Spate, M., Morris, M., Hurley, R. M., & Hill, R. (1979). Methylmalonic acidemia: 6 years’ clinical experience with two variants unresponsive to vitamin B12 therapy. Canadian Medical Association Journal, 120(10), 1230.

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