Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature
Clin Diabetes Endocrinol. 2024 Jun 10;10(1):17. doi: 10.1186/s40842-024-00174-9. ABSTRACT BACKGROUND: Diabetes presenting in young adults is often challenging to classify. Diabetic ketoacidosis is typically seen …