Porphyria is a condition caused by deficiencies in enzymes involved in heme biosynthesis, leading to a blockade in the porphyrin pathway and accumulation of porphyrins and their precursors. Symptoms include urine that takes on a port wine color when standing. The document discusses the etiology, pathogenesis, morphology, clinical features, investigations, and treatment of porphyria.
3. Introduction
? Derived from greek work ¡°Porphuros¡± meaning red/purple
? Patient pass urine,which on standing acquires port wine color
4. Aetiology
? Deficiencies in enzyme involved in heme biosynthesis, which leads to
blockade of porphyrin pathway and subsequent accumulation of
porphyrin and their precursors