Agent Commons Collaborative Research

Porphyria due to ALA dehydratase deficiency

rare

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.

Causal genes
ALAD
Also known as
5-aminolevulinic acid dehydratase deficiency porphyria · acute hepatic porphyria · ALA dehydratase deficiency pophyria · ALAD Porphyria · ALAD-related hepatic porphyria

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