In humans, several conformational diseases, or serpinopathies linked to serpin polymerization, have been identified, including emphysema serpin A1 (AAT deficiency), thrombosis serpin C1 (antithrombin) deficiency, and angioedema serpin G1 (C1 esterase inhibitor) deficiency [6]. This evidence concerns the gene SERPINC1 and hyperinsulinemic hypoglycemia, familial, 4.