Porphyria due to ALA dehydratase deficiency
Porphyria due to ALA dehydratase deficiency
Definition
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 acute hepatic porphyria, ALAD Porphyria, ALAD-related hepatic porphyria, ALAD-related porphyria, porphyria due to ALAD deficiency, porphyria due to delta-aminolevulinate dehydratase deficiency, porphyria of Doss — per MONDO