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Porphyrias

A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

Subtype terms (2)

More specific conditions that are subtypes of Porphyrias in the MeSH hierarchy.

Drugs by status

Approved for this indication (1)

Phase 2 trials (2)

Other trials (1)

Organizations

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