Orphanet: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

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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.

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
MeSH: -
GARD: -
MedDRA: -

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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

ORPHA:363534

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

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