Orphanet: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
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Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Disease definition

A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.

ORPHA:255235

Classification level: Disorder
  • Synonym(s):
    • mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G31.8
  • OMIM: 612075
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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