Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Synonyms: Booth-Haworth-Dilling syndrome | Mitochondrial encephalomyopathy-aminoacidopathy syndrome | mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay hypotonia failure to thrive progressive neurologic decline sensorineural deafness and movement disorder. Seizures external ophthalmoplegia polyneuropathy cardiomyopathy and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.
Data from Orphanetare used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version May 2023.
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