mitochondrial DNA depletion syndrome 3 (DOID:0080121)
Alliance: disease page
Synonyms: deoxyguanosine kinase deficiency
Alt IDs: OMIM:251880, MESH:C580039, ORDO:279934
Definition: A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.