PKLR and sitosterolemia: The remaining new variants were identified in enzyme genes (PKLR: p.R531S; HK1: p.R12X, p.G451R; NT5C3A: p.R22X), and in genes associated with sitosterolemia (ABCG5: p.Y458X) and sideroblastic anemia (ALAS2: p.H524R).