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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Disease definition
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is 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
- OMIM: 271245
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Additional information