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MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2012 May 17.



MPV17-related hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome is characterized by infantile-onset liver dysfunction that typically progresses to liver failure; neurologic involvement (developmental delay, hypotonia, and muscle weakness in the majority; ataxia, seizures, and motor and sensory peripheral neuropathy in some); failure to thrive; and metabolic derangements including lactic acidosis and hypoglycemic crises. Less frequent manifestations include renal tubulopathy, hypoparathyroidism, gastrointestinal dysmotility, and corneal anesthesia. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.


MtDNA content is severely reduced in liver tissue (<20% of controls) and muscle tissue (<30% of controls). Molecular genetic testing of MPV17 detects biallelic pathogenic variants in most affected children.


Treatment of manifestations: Ideally management is by a multidisciplinary team including specialists in hepatology, neurology, nutrition, medical genetics, and child development. Nutritional support should be provided by a dietitian experienced in managing children with liver diseases; prevention of hypoglycemia requires frequent feeds and uncooked cornstarch (1-2 grams/kg/dose). Although liver transplantation remains the only treatment option for liver failure, it is controversial because of the multisystem involvement in this disorder. Prevention of secondary complications: Prevent nutritional deficiencies (e.g., of fat-soluble vitamins) by ensuring adequate intake. Surveillance: Monitor: liver function to assess progression of liver disease; serum alpha fetoprotein (AFP) concentration and hepatic ultrasound examination for evidence of hepatocellular carcinoma; development, neurologic status, and nutritional status. Agents/circumstances to avoid: Prolonged fasting.


MPV17-related hepatocerebral mtDNA depletion syndrome is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family are known.

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