Navajo neurohepatopathy

Introduction

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

More general terms

• genetic syndrome (multisystem disorder)
• mitochondrial disease

Database

• OMIM: https://mirror.omim.org/entry/256810