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Leigh's Disease, a form of Leigh syndrome, is a rare neurometabolic disorder that affects the central nervous system. It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in mitochondrial DNA cause degradation of motor skills and eventually death.
Mitochondria are some of the most important organelles in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of glucose into that of adenosine triphosphate. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. Mitochondria are also unique in that they carry their own type of DNA, mitochondrial DNA, or mDNA. The information stored in the mDNA is used in the creation of new mitochondria.
When improper mutations of the mDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.
The disease is most noted for its degradation in a person’s ability to control their movements. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. As the disease progresses in adults, it may also cause general weakness, kidney failure and heart problems.
It is a very rare disorder which affects only a small portion of the population, but as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. It is currently treated with Vitamin B1, or thiamin, but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.
External link[]
de:Leigh-Syndrom
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