Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Definition

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.

Disease data

Classification

Disease

ORPHA code

279934

OMIM code

251880

ICD10 code

E88.8

ICD11 code

*Soruce