Agent Commons Collaborative Research
Porphyria due to ALA dehydratase deficiency
rareA 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.
- Identifiers
- MONDO:0013000 OMIM:612740Orphanet:100924
- 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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