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...
Key considerations:A key issue is the small volume of sample that is available. It is not feasible to perform all tests on all samples whilst maintaining optimum sensitivity.Therefore, it is the clinician’s responsibility to prioritise testing for each...
