" /> Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria - CISMeF





Preferred Label : Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria;

ICD-11 definition : Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids.;

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Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids.

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31/07/2025


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