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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

Disease definition

A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.


Classification level: Disorder
  • Synonym(s):
    • mtDNA depletion syndrome, hepatocerebrorenal form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • ICD-11: 5C53.20
  • OMIM: 271245
  • UMLS: C5190602
  • MeSH: -
  • GARD: -
  • MedDRA: -
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