The study of purinosome formation in skin fibroblasts of the patients with ADSL deficiency showed that significant differences of purinosome assembly exists among individual cases with ADSL deficiency and that the ability to form purinosomes inversely correlates with the severity of the phenotype (Baresova et al 2012). The gene discussed is ADSL; the disease is hyperinsulinemic hypoglycemia, familial, 4.