porphyria Syllabification: (por·phyr·i·a)Pronunciation: /pôrˈfi(ə)rēə/Definition of porphyria noun Medicine a rare hereditary disease in which the blood pigment hemoglobin is abnormally metabolized. Porphyrins are excreted in the urine, which becomes dark; other symptoms include mental disturbances and extreme sensitivity of the skin to light. Origin: 1920s: modern Latin, from porphyrinporphyria in other Oxford dictionaries Definition of porphyria in the British & World English dictionary