Porphyria

Porphyria refers to a group of rare metabolic disorders caused by deficiencies in enzymes involved in heme production, leading to the accumulation of porphyrins or their precursors. Clinically, it is significant due to its diverse presentations, which can include acute neurovisceral attacks, skin lesions, and photosensitivity, depending on the type. A key association is with acute intermittent porphyria, which can be triggered by certain medications, fasting, or hormonal changes, necessitating careful management.