Table 2.

Clinical Manifestations of MPV17-Related Hepatocerebral mtDNA Depletion Syndrome

Clinical ManifestationsFrequency
Hepatic
  • Liver dysfunction
  • Liver failure
  • Hepatomegaly
  • Liver cirrhosis
  • Hepatocellular cancer
31/31 (100%)
  • 31/31 (100%)
  • 28/31 (90%)
  • 14/29 (48%)
  • 7/29 (24%)
  • 2/31 (6%)
Neurologic
  • Developmental delay
  • Hypotonia, muscle weakness
  • White matter abnormalities in brain MRI
  • Peripheral neuropathy
  • Seizures
  • Microcephaly
  • Ataxia
26/29 (90%)
  • 24/29 (83%)
  • 19/29 (66%)
  • 10/29 (34%)
  • 8/29 (28%)
  • 3/29 (10%)
  • 2/29 (7%)
  • 2/29 (7%)
Failure to thrive26/29 (90%)
Metabolic
  • Lactic acidosis
  • Hypoglycemia
23/27 (85%)
  • 20/27 (74%)
  • 13/27 (48%)
Other manifestations
  • Renal tubulopathy
  • Gastroesophageal reflux
  • Vomiting and/or diarrhea
  • Corneal anesthesia and ulcers
  • Hypoparathyroidism
  • 3/29 (10%)
  • 3/29 (10%)
  • 3/29 (10%)
  • 3/29 (10%)
  • 2/29 (7%)

From: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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