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Mitochondrial DNA depletion syndrome
Disease definition
A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It 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.
ORPHA:35698
Classification level: Group of disorders- Synonym(s):
- mtDNA depletion syndrome
- Prevalence: Unknown
- Inheritance: -
- Age of onset: All ages
- ICD-10: -
- ICD-11: 5C53.20
- OMIM: -
- UMLS: C0342782
- MeSH: -
- GARD: -
- MedDRA: 10059396
Additional information