Table 2a.

Mitochondrial DNA Maintenance Defects Presenting with Encephalohepatopathy

GeneDisorder/PhenotypeMOImtDNA
Maintenance
Defect		Usual Age
of Onset		Common Manifestations
in Addition to Liver
Dysfunction/Failure
DGUOK

Deoxyguanosine kinase deficiency

ARDepletionNeonatal
  • DD
  • Hypotonia
  • Nystagmus
  • Lactic acidosis
MPV17

Hepatocerebral mtDNA depletion syndrome

AR

DepletionNeonatal
or infancy
  • DD
  • Hypotonia
  • Failure to thrive
  • Hearing impairment
  • Lactic acidosis
POLG

Alpers-Huttenlocher syndrome

AR

DepletionEarly
childhood
  • DD
  • Psychomotor regression
  • Epilepsy
  • Hearing impairment
TFAM Encephalohepatopathy (OMIM 617156)

AR

DepletionNeonatal
  • IUGR
  • Hypoglycemia
TWNK Encephalohepatopathy (OMIM 271245)

AR

DepletionNeonatal
or infancy
  • DD
  • Hypotonia
  • Lactic acidosis

AR = autosomal recessive; DD = developmental delay; IUGR = intrauterine growth restriction; MOI = mode of inheritance; mtDNA = mitochondrial DNA

From: Mitochondrial DNA Maintenance Defects Overview

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