Navajo neurohepatopathy

Common Name(s)

Navajo neurohepatopathy

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression ({9:Spinazzola et al., 2008}). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 ({603041}).
 

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Condition Specific Organizations

Following organizations serve the condition "Navajo neurohepatopathy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "Navajo neurohepatopathy" returned 1 free, full-text research articles on human participants. First 3 results:

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
 

Author(s): Charalampos L Karadimas, Tuan H Vu, Stephen A Holve, Penelope Chronopoulou, Catarina Quinzii, Stanley D Johnsen, Janice Kurth, Elizabeth Eggers, Lluis Palenzuela, Kurenai Tanji, Eduardo Bonilla, Darryl C De Vivo, Salvatore DiMauro, Michio Hirano

Journal: Am. J. Hum. Genet.. 2006 Sep;79(3):544-8.

 

Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, ...

Last Updated: 15 Aug 2006

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The terms "Navajo neurohepatopathy" returned 0 free, full-text review articles on human participants.

 
 
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