Rare Zebra

Rare disease search prototype built on Orphanet data

← Back to search

ORPHA:100924

Porphyria due to ALA dehydratase deficiency

Also called ALAD porphyria, Porphyria due to ALAD deficiency, Porphyria due to delta-aminolevulinate dehydratase deficiency, Porphyria of Doss

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Childhood
Estimated prevalence
<1 / 1 000 000 (Europe)
Rarity class
<1 / 1 000 000

ORPHA:100924 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Abnormal enzyme/coenzyme activity
  • Purple urine
  • Abnormal circulating porphyrin concentration
  • Abnormality of the nervous system
  • Peripheral neuropathy
  • Muscle weakness