[A study of an automated porphyria diagnosis system using urinary porphyrin profile analysis]

Porphyrins are essential substances for the biosynthesis of heme. Porphyria results from a disorder in the metabolism of porphyrin. Patients suffering from Porphyria exhibit changes in their porphyrin profiles as measured in excretia and organs. A highly sensitive and simple analytical method using high-performance liquid chromatography (HPLC) for all porphyrin metabolites in urine was established. This method is able to separate porphyrins such as uroporphyrin, carboxylic acid porphyrins of hepta-, hexa-, penta-, and coproporphyrin isomers of I and III in a sample of human urine. In this study, the combination of HPLC with a computer system for automated porphyria diagnosis was investigated. The profile of all urinary porphyrins from patients with various Porphyria were measured by HPLC and diagnosed by the computer diagnostic system. This system enabled the estimation of 5 types of porphyrias with a high accuracy of diagnosis.