GTR Home > Conditions/Phenotypes > Mitochondrial DNA-depletion syndrome 3, hepatocerebral

Disease characteristics

Excerpted from the GeneReview: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a hepatocerebral mitochondrial DNA depletion syndrome (multisystem disease in neonates) and isolated hepatic disease later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (cholestasis) and neurologic dysfunction evident within weeks of birth. They subsequently manifest severe hypotonia, developmental regression, and typical rotary nystagmus that evolves into opsoclonus. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.

Associated genes

Clinical features

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  • Ascites
  • Hypothermia
  • Splenomegaly
  • Thrombocytopenia
  • Hyperreflexia
  • Hypoalbuminemia
  • Hyperbilirubinemia
  • Decreased activity of mitochondrial respiratory chain
  • Abnormal conjugate eye movement
  • Microcephaly
  • Generalized aminoaciduria
  • Periportal fibrosis
  • Lactic acidosis
  • Seizure
  • Encephalopathy
  • Nystagmus
  • Failure to thrive
  • Feeding difficulties in infancy
  • Vomiting
  • Jaundice
  • Muscular hypotonia
  • Polyneuropathy
  • Hepatic steatosis
  • Hepatic failure
  • Hepatocellular necrosis
  • Portal hypertension
  • Micronodular cirrhosis
  • Growth delay
  • Hypoglycemia
  • Cerebral atrophy
  • Hepatomegaly
  • Elevated hepatic transaminases
  • Depletion of mitochondrial DNA in liver
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