mitochondrial DNA depletion syndrome 3

Term ID

DOID:0080121

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. (3)

References

• GARD:13644
• MESH:C580039
• MIM:251880
• ORDO:279934

Ontology

Human Disease   ( DOID:0080121 )