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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

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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.

ORPHA:363534

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

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018)
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