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Alpers-Huttenlocher syndrome

Disease definition

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ORPHA:726

  • Synonym(s):
    • Alpers progressive sclerosing poliodystrophy
    • Alpers syndrome
    • Progressive neuronal degeneration of childhood with liver disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G31.8
  • OMIM: 203700
  • UMLS: C0205710
  • MeSH: D002549
  • GARD: 5783
  • MedDRA: 10062943

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