Catalog

Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria

No MMS code

Link to WHO Definition

Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria – http://id.who.int/icd/entity/1700584252

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.