MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States.  It is characterized by infantile-onset liver dysfunction that typically progresses to liver failure, neurologic involvement, including developmental delay, frequently observed hypotonia, and muscle weakness, ataxia, seizures, and motor and sensory peripheral neuropathy in some patients, failure to thrive; and metabolic derangements, including lactic acidosis and hypoglycemic crises.  Approximately 30 cases have been reported in the scientific literature. 

The diagnosis is based on mtDNA content that is severely reduced in liver tissue (<20% of controls) and in muscle tissue (<30% of controls).   Molecular genetic testing of MPV17 gene can be used to detect mutations in the affected children.  The disease is fatal, with liver failure often leading to death in infancy or early childhood.

The MPV17 gene is located on chromosome 2p23.3 and has 7 exons.  Twenty different mutations have been reported in patients with infantile hepatic mtDNA depletion.  These mutations include mis-sense, nonsense, in-frame deletions, splicing site, insertion, frame-shift, and large deletions encompassing the entire gene.