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Acute hepatic porphyria

ORPHA:95157

Definition

A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare).

Prevalence
1-5 / 10 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
All ages