Zespół deplecji mitochondrialnego DNA, postać wątrobowo-mózgowa z powodu niedoboru DGUOK

A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.