Fig. 4.
AICAr and AICA are highly elevated in the urine of patients with HGprt deficiency. (A–D) Xanthine, hypoxanthine, AICA, and AICAr concentration in urine samples of control individuals (n = 28) and HGprt-deficient patients (LND, n = 17; HND, n = 9; HRH, n = 2) were determined by HPLC. The results are expressed as micromoles per liter as the mean ± SEM. (E) High levels of AICAr+AICA in the urine of LND, HND, and HRH patients. (F) The ratio AICAr/AICA is increased in the patients with neurological problems (LND and HND). ****P < 0.0001; ***P < 0.001; **P < 0.01; *P < 0.05. Kruskal-Wallis, uncorrected Dunn’s test.
