Catalog
Mitochondrial DNA depletion syndromes
Link to WHO Definition
Mitochondrial DNA depletion syndromes – http://id.who.int/icd/entity/1159345506
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form.
Parents
Children
- Mitochondrial DNA depletion syndrome, encephalomyopathic form
- Mitochondrial DNA depletion syndrome, hepatocerebral form
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Childhood-onset autosomal dominant optic atrophy
- Mitochondrial DNA depletion syndrome, myopathic form
- Myoneurogastrointestinal encephalopathy syndrome