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Arginine and citrulline for the treatment of MELAS syndrome
Introduction. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease that has a broad spectrum of manifestations, including stroke-like episodes, dementia, epilepsy, lactic acidosis, exercise intolerance, muscle weakness, migraine headaches, sensorineural …
Diagnosing and Treating MELAS: Issues for Clinicians
The patient was started on a continuous infusion of intravenous arginine and symptoms resolved within 72 hours. Mitochondrial DNA sequencing identified a 51% heteroplasmic mutation at m.3243A>G, the most common mutation associated with MELAS. Pathophysiology of MELAS. Stroke-like episodes are the typical presenting feature in …
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is an extremely rare genetic condition that begins in childhood. The disorder affects many areas of the body, especially the brain and nervous system (encephalo-) and muscles (myopathy). MELAS is also characterized by a buildup of lactic acid in the body (lactic acidosis) as …
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Ophthalmologic Manifestations in MELAS
Other mechanisms of MELAS are still under investigation. Symptoms. The majority of symptoms of MELAS involve the brain and muscles. More than 50% of patients have reported visual disturbances. The stroke-like episodes in MELAS contributes to the retrochiasmal visual loss, which can manifest as hemianopia, or cortical vision loss. Signs
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Hyperpigmentation is a common skin condition caused by an overproduction of melanocytes, the cells that produce skin pigmentation. There are several different kinds of hyperpigmentation, but melasma is a harder nut to crack when it comes to causes and treatment. In terms of appearance, melasma can be characterized by dark, discolored …
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A Modern Approach to the Treatment of Mitochondrial …
A randomized double-blind, placebo-controlled, 3-year crossover trial of DCA in patients with MELAS had to be terminated because of DCA toxicity, consisting of peripheral neuropathy that overshadowed the assessment of potential benefit [37, Class II]. DCA has "orphan drug" status. It is used on a compassionate basis or as a part of research ...
Diagnosis of adult-onset MELAS syndrome in a 63-year-old …
The age of the first clinical presentation of stroke-like episodes in MELAS is highly variable, but first episodes usually occur before the age of 40. Although MELAS is a rare disease, the present case illustrates that the clinical presentations and imaging findings may mimic stroke, the most common acute brain disease.
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