Porphyrias are a group of rare inherited or acquired disorders caused by deficiencies in the activities of the enzymes involved in heme biosynthesis pathway, which lead to specific accumulation of various heme precursors.These diseases manifest either neurological complications or skin problems.Clinicians usually use the clinical presentation and the biochemical abnormalities in symptomatic patients to diagnose porphyrias.However, due to the complexity nature of porphyrias, it hardly to make confirmative molecular diagnosis for most of cases in China.