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
sup] 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).