The porphyrias arise from enzyme defects in the haem biosynthetic pathway. Accumulation of the precursors (ALA and PBG) lead to acute neurovisceral attacks, marked by severe abdominal pain and autonomic neuropathy, which may progress to a potentially fatal motor neuropathy. Accumulation of the porphyrins lead to photocutaneous sensitivity, which presents with skin fragility, blistering and erosions in sun-exposed areas. For further information refer to www.porphyria-professionals.uct.ac.za
Porphyria Testing Update