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Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Disease definition

A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ORPHA:217371

Classification level: Disorder
  • Synonym(s):
    • Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: K72.0
  • OMIM: 613070
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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