There is a paucity of data with respect to the co-existence of persistent dysglycemia with BKD.<h4>Case presentation and literature review</h4>We present a novel case of diabetes presenting as diabetic ketoacidosis in a 34-year-old man with BKD, with genetically confirmed compound heterozygosity for variants in ACAT1, including a novel ACAT1 c.481T>C, p.(Tyr161His) variant. The gene discussed is ACAT1; the disease is diabetes mellitus.