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hepatocerebral mitochondrial DNA depletion syndrome (ARHCMDS)
clinically heterogeneous group of disorders
Genetics:
- associated with defects in MPV17, DGUOK, or C10ORF2
- reduction in mitochondrial DNA (mtDNA) copy number
- primary mtDNA depletion is inherited as an autosomal recessive trait
Pathology:
- may affect single organs, typically muscle or liver, or multiple tissues
- increased lactate in body fluids
Clinical manifestations:
- early progressive liver failure & neurologic abnormalities
Laboratory:
- serum glucose: hypoglycemia
General
genetic syndrome (multisystem disorder)
mitochondrial disease
Database Correlations
OMIM 251880
References
OMIM :accession 251880