mitochondrial DNA depletion syndrome
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.
MONDO:0015188
obsolete metabolic disorder with intestinal involvement (obsolete MONDO:0015188)
excluded_subClassOf
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
mtDNA depletion syndrome
exact
SPBC1198.05 SPAC3G6.05 SPBC1718.06 SPAC4G9.14 SPAC328.09 SPBC530.10c SPAPB17E12.10c SPBC16D10.04c SPCC1620.08 SPBC1347.04 SPAC16E8.17c SPBC25D12.04 SPBC543.09 SPCC24B10.22 SPAC4G9.11c SPBC2G2.15c