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mitochondrial DNA depletion syndrome type 3
Pathology:
- affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes & mtDNA depletion
Genetics:
- associated with defects in DGUOK (type 3)
Clinical manifestations:
- onset in infancy
- progressive liver failure
- hypoglycemia
- neurologic abnormalities
- hypotonia
- encephalopathy
- peripheral neuropathy
Laboratory:
- increased lactate in plasma & other body fluids
General
myopathic mitochondrial DNA depletion syndrome
Database Correlations
OMIM 251880
References
OMIM :accession 251880