| 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
|