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Leigh's Disease

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or this units discussion I will be writing about Leigh’s Disease. According to the National Institute of Neurological Disorders and Stroke (December 16, 2011), “Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, …show more content…

According to The U.S. National Library of Medicine (November 1, 2016), The mitochondrial gene most commonly mutated by Leigh’s syndrome is MT-ATP6 which provide instructions for a protein that makes up one part of complex V, an important enzyme in oxidative phosphorylation that generates ATP in the mitochondria. The mitochondrial gene mutations that cause Leigh syndrome impair oxidative phosphorylation. Although the mechanism is unclear, it is thought that impaired oxidative phosphorylation can lead to cell death in sensitive tissues, which may cause the signs and symptoms of Leigh syndrome. This organelle is very important to each cell in all that I read there is very little that can be done and will most likely result in death. Based on several sources there is no treatment for Leigh’s Disease The Gale Group (2005), states that Treatment for Leigh syndrome is aimed at easing the disease-related symptoms and involves neurologists, pediatricians, clinical geneticists, nurses, and other related caretakers. Psychological counseling and support for family members caring for a child with Leigh disease is often encouraged. Currently, there is no treatment that is effective in slowing the progression of Leigh disease. Thiamine or vitamin B1 is

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