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ACP Best Practice No 165

Front line tests for the investigation of suspected porphyria

Department of Clinical Biochemistry, King's College Hospital, Denmark Hill, London SE5 9RS, UK
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK

Professor Elder elder{at}cardiff.ac.uk The porphyrias are uncommon disorders of haem biosynthesis and their effective management requires prompt and accurate diagnosis. This article describes methods for the determination of urinary porphobilinogen, urinary and faecal total porphyrins, and total porphyrins in erythrocytes and plasma that are suitable for use in non-specialist laboratories. The selection and interpretation of these methods, and the indications for further, more specialised, investigation are discussed.

Key Words: porphyria • haem biosynthesis • best practice guidelines

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