Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Synonyms: mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy?
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For a list of clinical trials in this disease area, please click here.