The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Comprehensive, easy-to-understand information about this condition
Checking for content...
mitochondrial respiratory chain complex deficiency
MONDO:0000066
combined oxidative phosphorylation deficiency
MONDO:0000732
myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863
optic atrophy 3
MONDO:0008133
autosomal dominant optic atrophy, classic form
MONDO:0008134
Sengers syndrome
MONDO:0008922