Abstract
The porphyrias are a group of rare, mainly inherited, disorders of haem biosynthesis, characterized by the accumulation and excessive excretion of haem precursors. Diagnosis relics heavily upon laboratory investigation, in particular the measurement of the prophyrin precursors 5-aminolaevulinic acid (ALA) and porphobilinogen (PSG) in urine, free protoporphyrin in erythrocytes, fluorescence emission spectrophotometry of plasma and the identification of porphyrins excreted in excess amounts in urine and faeces. High-performance liquid chromatography (HPLC) is the preferred tool for porphyrin analysis since it is capable of resolving all porphyrins of clinical importance, including isomers and metal chelates. Methods involving partition between organic solvents and aqueous phases of varying acidity to separate urinary porphyrin into a uroporphyrin fraction and a coproporphyrin fraction, and faecal porphyrin into a coproporphyrin fraction and protoporphyrin fraction, appear attractive to many laboratories because no special equipment is required. One such method is recommended in the current Association of Clinical Pathologists Broadsheet! on the investigation of disturbances of porphyrin metabolism.
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