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.
MONDO:0002520
hepatic porphyria
is_a
MONDO:0019142
inherited porphyria
is_a
5-aminolevulinic acid dehydratase deficiency porphyria
related
ALA dehydratase deficiency pophyria
related
ALAD Porphyria
exact
ALAD porphyria
exact
ALAD-related hepatic porphyria
exact
ALAD-related porphyria
exact
acute hepatic porphyria
exact
aminolevulinate dehydratase deficiency porphyria
related
porphyria due to ALAD deficiency
exact
porphyria due to delta-aminolevulinate dehydratase deficiency
exact
porphyria of Doss
exact
SPAC1805.06c