Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Disease Export to PDF
Name:
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Description:
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.
ORPHAcode:
279934
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14