Navajo neurohepatopathy

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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: // Data version September 2023.

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Advocacy Organizations

Cure Mito Foundation

Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.

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.


MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.


MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.