Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder, mainly characterized by tortuosity and elongation of the large- and medium-sized arteries with predisposition to stenoses and aneurysms. ATS is caused by mutations in the SLC2A1 gene, encoding for the facilitative glucose transporter 1 (GLUT1) and is described typically in pediatric patients. The loss-of-function mutation in the gene encoding the facilitative glucose transporter GLUT1 (SLC2A1) causes arterial tortuosity syndrome via upregulation of the TGF-beta pathway in the arterial wall, a mechanism possibly causing vascular changes in diabetes. The SLC2A1 gene is an independent risk factor for PAD in type 2 diabetes.