Porphyria due to ALA dehydratase deficiency

A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented.

Also known as: ALAD Porphyria, ALAD porphyria, ALAD-related hepatic porphyria, ALAD-related porphyria, acute hepatic porphyria, porphyria due to ALAD deficiency, porphyria due to delta-aminolevulinate dehydratase deficiency, porphyria of Doss

1 clinical trial for this condition and its sub-types, 0 tagged with Porphyria due to ALA dehydratase deficiency itself.