MELAS syndrome


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MELAS syndrome

 
mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; a familial type of mitochondrial encephalopathy, of maternal (mitochondrial) inheritance.

MELAS syndrome

abbreviation for mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, constituting a familial syndrome of maternal (mitochondrial) inheritance.

MELAS syndrome

The combination of Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like attacks. The syndrome also features retinal degeneration leading to visual field defects, and sometime hemiplegia.
References in periodicals archive ?
MELAS syndrome is one of the most frequently occurring mitochondrial disorders and is most commonly caused by an A-to-G transition mutation at the 3243 position of the mitochondrial genome.
I had never before had an experience with a MELAS syndrome patient, although I have experience in treating another fatal mitochondrial disease, amyotrophic bilateral sclerosis, with some relative success but accompanied by the incapacity of the patients to pursue the treatment.
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.
It is important to distinguish CADASIL both from other common vascular diseases, such as atherosclerosis and Binswanger disease, and rare familial disorders, such as MELAS syndrome and homocystinuria.
sup][24] These phenotypes range from myopathy alone (3302A>G), to proximal and truncal myopathy and sudden death (3251A>G), to a disorder that often predominantly affects the CNS including the MELAS syndrome (3243A>G, 3271T>C, 3252T>C).
22) deficiency (n = 10) among young relatives of patients; (b) Marfan phenotype (n = 5); (c) stroke [(n = 53): ischemic infarct and (or) thrombosis (n = 38); hemorrhage (n = 13) and MELAS syndrome (n = 2)]; (d) megaloblastic anemia (n = 1); Group 2: secondary abnormalities: (a) well-controlled diabetes mellitus without renal failure (n = 135); (b) renal failure [(n = 13): nephrotic syndrome (n = 7), cystinuria--lysinuria (n = 2) and Fanconi syndrome: cystinosis (n = 1), Lowe syndrome (n = 2), and tyrosinemia type I (n = 1)], and (c) anorexia nervosa (n = 43).