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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-10-2013
Symbol MDDS3
Location 2p23.3
Name mitochondrial DNA depletion syndrome 3, hepatocerebral form
Other name(s)
  • Navajo neurohepatopathy
  • mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • Corresponding gene MPV17
    Other symbol(s) MTDPS6
    Main clinical features
  • early progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids
  • in affected tissues both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion
  • Genetic determination autosomal recessive
    Related entries including lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy
    Function/system disorder multisystem/generalized
    Type disease