Bempedoic Acid Treatment in Four Adult Patients with Glycogen Storage Disease Type 1a: A Retrospective, Exploratory Case Series

Background

Glycogen storage disease type 1a (GSD 1a) is an inborn error of metabolism due to glucose-6-phosphatase deficiency. Treatment consists of frequent, carbohydrate-rich meals, intake of glucose polymers like uncooked cornstarch, or drip feeding in small infants. Although dietary treatment is challenging, it has improved the long-term outcomes for patients with GSD 1a. Nevertheless, several complications, including dyslipidaemia, remain difficult to manage, and early atherosclerosis with risk for ischemic stroke is a potential long-term concern. We propose bempedoic acid (BA) as a potential treatment option for dyslipidaemia in adult patients with GSD 1a. BA is an approved lipid-lowering therapy and may have additional beneficial metabolic effects in patients with GSD 1a. We hypothesize that BA may reduce malonyl-CoA concentrations and thereby alleviate the inhibition of mitochondrial fatty acid oxidation. This could potentially contribute to improved metabolic stability in patients with GSD 1a.