Symptoms of porphyria usually overlap with other clinical conditions, thereby leading to misdiagnosis and inappropriate treatment, especially when patient presents with uncommon features. An accurate diagnosis of porphyria can be made only when enzyme defects can be detected, which is costly and not easily available. Classically, Ehrlich's test used to screen porphyria has certain disadvantages too. Hence, we planned this study.

To develop comparatively simpler diagnostic tests feasible at tertiary care centers to work up porphyria cases.

A suspected case of porphyria was screened using Ehrlich's test. Thereafter, patient's urine and serum samples were analyzed by ultraviolet (UV) absorption spectral scan and fluorescence emission spectral scan using multimode microplate reader and compared against normal controls to validate the results.

The UV absorption spectral scan revealed a small peak at 410 nm for patient's urine sample, which intensified on acidification. The UV absorption spectral scan for patient's serum also showed absorbance peak at 405 nm vs normal serum. The fluorescence emission spectral scan of urine and serum of patient revealed a sharp emission peak at 626 nm, which was not present in respective samples of control. Fluorescence emission in patient's urine sample was 10.5 times more vs normal urine.

Novel methods like UV absorption spectral scan and fluorescence emission spectral scan using patient's urine and serum samples can be developed as diagnostic tests considering their practicality and affordability. Further, an algorithm formulated based on clinical features and basic lab tests can also identify the type of porphyria.

Nimesh A, Agarwal V, Garg S, Mehndiratta M. Ultraviolet Absorption Spectral Scan and Fluorescence Emission Spectral Scan Analysis: Potential Tests with Diagnostic Utility in Porphyria. Indian J Med Biochem 2017;21(2):136-141.