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.;
Origin ID : 1700584252;
CISMeF manual mappings
See also inter- (CISMeF)
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.