ER: A Shift in the Night

each post gonna contain a bunch of cases i visited on ER or Clinic a week before

Friday, August 1, 2008

Mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS)

Mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS) in PICU



Mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS) is, from the clinical point of view, one of the best studied mitochondrial multisistemic disorders. This disease has mainly been associated to the mitochondrial desoxyribonucleic acid (mtDNA) mutation A3243G located in the tRNALeu(UUR) gene. Although a relation between European haplogroups and the presence of the 3243 mutation has not been described

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