Hepatic porphyria

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.

Also known as ALAD deficiency, Delta-aminolevulinate dehydratase deficiency, hepatic porphyria, liver porphyria, porphobilinogen synthase deficiency, porphyria of liver — per MONDO

Also identified as

• DOID 3133 per MONDO
• MESH D017094 per MONDO
• Orphanet 659694 per MONDO
• SCTID 55056006 per MONDO
• UMLS C0162533 per MONDO

Drugs indicated