Diagnosis for Acute Intermittent Porphyria

One of the most common and accurate methods to diagnose an individual with acute intermittent porphyria (AIP) is urine test. Typically, the researchers were conducted the urine test in order to examine and measured the level of the urine porphobilinogen (PBG) and urine aminolevulinic acid (ALA) (Larion et al., 2013; Metha et al., 2010).  Past findings found that the level of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) from the patients with AIP were higher compare with individual who totally do not have AIP at all (Elkhatib et al., 2014; Meena et al., 2016 & Metha et al., 2010).  Forthwith, majority of the patients was utilized the urine test by the researchers and doctors in order to diagnose AIP.  Based on a case study which studied a few of patients with AIP, it showed that 4 out of 5 patients was diagnosed AIP by using the urine test (Sezgin, 2016).  Another studies also supported Sezgin’s diagnosis and reported that the level of PBG and ALA in urine can used to diagnose the AIP due to the level of the urine excretion in porphobilinogen will elevated during acute attack (Stoian et al., 2014; Yuan et al., 2015). Other than that, level of porphobilinogen deaminase (PBGD) enzyme activity in erythrocytes was abnormally lower than normal people (Stoian et al., 2014).

Surprisingly, the color of urine from people with AIP was became totally different compare with normal individual who do not have AIP at all (American Porphyria Foundation, 2015).  Prior findings also supported this view.  However, different case studies had shown minor results in the urine's color.  For example, urine color of the patient were turn into dark color (Yuan et al., 2015).  By the same token, Sezgin (2016) also reported that one of the patient’s urine was became in purple color. Most compelling evidence, Dosi at al. (2013) highlighted and showed that the urine of the patient was became reddish hue. More significantly, the color of urine was changed again after the urine exposure under the sunlight a couple of hours, and it became the darkened which almost became the black color.

Figure 25. Urine of AIP patient before and after exposure to sunlight