Mondo Description Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.

Uniprot Description A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.