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All Diseases > Mitochondrial Encephalomyopathy Lactic Acidosis with Stroke-Like Episodes
Mitochondrial Encephalomyopathy Lactic Acidosis with Stroke-Like Episodes (MELAS)
Alternative Names: MELAS Syndrome; Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Disease Category: Mitochondrial Disorders
A rare, inherited disorder of the nerves and muscles caused by mutations affecting the mitochondria (specialized cell structures that produce energy). The main manifestations are stroke-like episodes causing neurological problems such as hemiparesis (muscle weakness on one side of the body) or hemianopsia (loss of vision on the left or right side), seizures, encephalopathy (brain disease), lactic acidosis (high blood lactate levels). Other symptoms and signs include: hearing loss, severe recurrent headaches, altered consciousness, intellectual disability, muscle and abdominal pain, loss of appetite, vomiting, fatigue, myoclonus (muscle jerking), ataxia (lack of coordination), diabetes, hormonal imbalance, heart problems, and kidney problems.
Research groups studying this disease
7416: L-Citrulline treatment of nitric oxide deficiency in MELAS: a Phase I dose-finding and safety study
Establish the maximum tolerable dose of L-citrulline in patients with MELAS.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.