hepatic porphyria
Findings
No curated finding names hepatic porphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Definition from the Mondo Disease Ontology (MONDO:0002520), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
5 names
Resolves to: hepatic porphyria
- Also called
- ALAD deficiencyDelta-aminolevulinate dehydratase deficiencyliver porphyriaporphobilinogen synthase deficiencyporphyria of liver