Term Name: | mitochondrial DNA depletion syndrome 3 |
---|---|
Synonyms: | deoxyguanosine kinase deficiency |
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. |
Ontology: | Human Disease [DOID:0080121] ( DOID:0080121 ) |