mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
What is mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.
If you think you may have mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.