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Disease characteristics

Excerpted from the GeneReview: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
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.

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Associated genes

Clinical features

  • Hyporeflexia
  • Areflexia
  • Short stature
  • Distal muscle weakness
  • Macrovesicular hepatic steatosis
  • Painless fractures due to injury
  • Reye syndrome-like episodes
  • Acral ulceration and osteomyelitis leading to autoamputation of digits
  • Lactic acidosis
  • osteomyelitis leading to amputation due to slow healing fractures
  • Diarrhea
  • Nystagmus
  • Failure to thrive
  • Increased susceptibility to fractures
  • Vomiting
  • Recurrent corneal erosions
  • Ataxia
  • Global developmental delay
  • Dystonia
  • Cirrhosis
  • Microvesicular hepatic steatosis
  • Abnormality of the foot
  • Hypoglycemia
  • Hepatomegaly
  • Abnormality of the immune system
  • Elevated hepatic transaminases
  • Decreased number of peripheral myelinated nerve fibers
  • Acute hepatic failure
  • Prolonged neonatal jaundice
  • Pain insensitivity
  • Sensorimotor neuropathy
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