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

More general terms

• myopathic mitochondrial DNA depletion syndrome

Database

• OMIM: https://mirror.omim.org/entry/251880