Navajo neurohepatopathy
Synonyms: Navajo neuropathy
A rare life-threatening mitochondrial DNA depletion syndrome disease characterized by severe progressive sensorimotor neuropathy associated with corneal ulceration scarring or anesthesia acral mutilation metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure a Reye-like syndrome or indolent progression to liver cirrhosis depending on clinical form involved) present in the Navajo Native American population. Clinical presentation includes failure to thrive distal limb weakness with reduced sensation limb contractures with loss of function areflexia recurrent metabolic acidosis with intercurrent illness immunologic anomalies manifesting with severe systemic infections and sexual infantilism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Navajo neurohepatopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
For a list of clinical trials in this disease area, please click here.