Leigh’s disease refers to a rare, inherited neurometabolic disorder that affects a person’s central nervous system. It is a progressive disorder that begins in infants between the age of three months and two years. It rarely occurs in teenagers and adults. The disease can be caused as a result of mutations in the mitochondrial DNA or by deficiencies of a particular enzyme referred to as pyruvate dehydrogenase. The symptoms of Leigh’s disease tend to progress rapidly and its earliest signs include poor suckling ability, loss of motor skill and head control.
These symptoms may also be accompanied by vomiting, loss of appetite, continuous crying, irritability and seizures. As the disease progresses, its symptoms tend to include generalized weakness, episodes of lactic acidosis, lack of muscle tone, etc; these can lead to an impairment of the kidney as well as respiratory function.
The prognosis for people suffering from Leigh’s disease is poor. Those people who lack mitochondrial complex IV activity as well as those who have pyruvate dehydrogenase deficiency tend to have a better prognosis. These individuals may also live up to 6 or 7 years of age. Some patients have even survived through to the mid-teenage years.
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