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Navajo neurohepatopathy
infantile, childhood, & classic forms have been described
Epidemiology:
- prevalent among Navajo children in the southwestern United States
Pathology:
- hepatopathy
- cerebral leukoencephalopathy
- primary defect in mtDNA maintenance
Genetics:
- autosomal recessive
- associated with defects in MPV17
- mitochondrial DNA depletion detected in liver
Clinical manifestations:
- peripheral neuropathy
- corneal anesthesia & scarring
- acral mutilation
- failure to thrive
- recurrent metabolic acidosis with intercurrent infections
General
genetic syndrome (multisystem disorder)
mitochondrial disease
Database Correlations
OMIM 256810
References
OMIM :accession 256810