mitochondrial DNA depletion syndrome 3

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 homozyg

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.

Signs and symptoms

• Hepatic failure
• Failure to thrive
• Elevated circulating alpha-fetoprotein concentration
• Lactic acidosis
• Depletion of mitochondrial DNA in liver
• Encephalopathy
• Hepatic steatosis
• Hypothermia
• Seizure
• Polyneuropathy

Also known as: deoxyguanosine kinase deficiency