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Multiple mitochondrial dysfunctions syndrome type 1

Disease definition

A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.


Classification level: Disorder
  • Synonym(s):
    • MMDS1
    • NFU1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.8
  • OMIM: 605711
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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