HLCS and hyperinsulinemic hypoglycemia, familial, 4: For example, Donti et al. have reported five patients with HLCS deficiency carrying six novel pathogenic mutations: c.500 A > C (p.Tyr167Ser), c.1532 A > T (p.Asn511Ile), c.2078G > C (p.Gly693Ala), c.977G > A (p.Gly326Glu), c.1710 C > G (p.Asn570Lys), and c.1519 + 5G > A [15].