Fig. 3.

Urine from patients with UROC1 pathogenic variants reveals altered histidine metabolism. Biochemical maps showing metabolic perturbations in urine from Patient 1 (a) and Patient 2 (b), both diagnosed with urocanic aciduria. Red circles indicate biochemicals with positive z-scores (z-score ≥ 2) and blue circles indicate biochemicals with negative z-scores (z-score ≤ −2). The diameters of the circles indicate the magnitude of the z-score. Pink circles represent biochemicals with z-score of 1.5 ≤ z < 2.0 and light blue circles represent biochemicals with −2.0 < z ≤ −1.5. Black circles represent other biochemicals in the pathway detected in the EDTA plasma samples but had z-scores of −1.5 < z < 1.5. Gray circles represent biochemicals in the library but not detected. White circles are pathways linked to the histidine metabolism pathway. Rectangles represent enzymes in the pathways with the associated EC number for identification. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)