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Porphyria due to ALA dehydratase deficiency

Disease definition

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

ORPHA:100924

  • Synonym(s):
    • ALAD porphyria
    • Porphyria due to ALAD deficiency
    • Porphyria due to delta-aminolevulinate dehydratase deficiency
    • Porphyria of Doss
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood
  • ICD-10: E80.2
  • OMIM: 612740
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Additional information

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