Diagnosis Of Porphyria By Measuring Metabolites Of Heme Biosynthesis In Correlation With Clinical Findings 2031-2035
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Background: Porphyria is a group of genetic diseases which require specialized laboratory facilities for accurate diagnosis .Facilities for diagnosis of Porphyria have been established in our institution since 1996 with few biochemical investigations in correlation with clinical findings.
Materials And Methods: Quantification of urinary total porphyrins was done by Double beam computerized spectrophotometer. Urine porphobilinogen (PBG) is screened by Hoesch test (1) and confirmed by Watson-Schwartz test (2). Presence of PBG in urine was further confirmed by wavelength scanning by spectrophotometer.
Results And Discussion: Normal value of total porphyrins in urine: <35nmol/µmol of creatinine. In last 12 years, we have diagnosed four cases of Porphyria. The two cases were diagnosed as Acute Intermittent Porphyria (AIP) on the basis of increased levels of urine total porphyrins, increased urine PBG with symptoms of acute neurovisceral attack. In one case, there was increased level of total urine porphyrins up to 91.6 nmol/µmol of creatinine with history of photosensitivity, skin bullae with scars since childhood. The case was diagnosed as Congenital Erythropoetic Porphyria (CEP). In the other one, urinary total porphyrins was increased up to 1695 nmol/µmol of creatinine and urine PBG was absent with signs of cutaneous manifestations due to precipitating factors. This case was diagnosed as Porphyria Cutanea Tarda (PCT).
Conclusion: Any Biochemistry Laboratory having spectrophotometer can diagnose porphyria with clinical correlation.