A total of 8 out of 60 showed a low CoQ/Chol ratio, corresponding to 3 patients with hypobetalipoproteinemia (heterozygous mutation in the APOB gene, hypofibrinogenemia caused by heterozygous mutation in the FGG gene, and chylomicron retention disease caused by homozygous mutation in the SAR1B gene) and 5 patients with hypercholesterolemia (1 patient with Alagille syndrome, 1 with liver cirrhosis, 1 with heterozygous LDLR mutations, and 2 of unknown aetiology). Here, SAR1B is linked to hypobetalipoproteinemia.