Mitochondrial DNA (mtDNA) depletion syndrome is an autosomal inherited disease, characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MTDPS3 presents in infancy with progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, and peripheral neuropathy.
Diagnosis of the condition is based on reduced mtDNA copy number in the liver or the muscles. In addition, molecular genetic testing of the DGUOK gene is necessary to establish the specific diagnosis of the Mitochondrial DNA (mtDNA) depletion syndrome.