A challenging diagnosis of B-ketothiolase deficiency mimicking type 1 diabetes mellitus

• Main Authors: Amal Ali Al-Hakami (Author), Malak Ali Alghamdi (Author), Khalid Sumaily (Author), Reem Abdullah Al-Khalifah (Author)
• פורמט: ספר
• יצא לאור: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Beta-ketothiolase (BKT) deficiency is a disorder of ketone body metabolism and isoleucine catabolism. Patients with BKT deficiency have intermittent ketoacidosis attacks. In this report, we describe an unusual case that mimicked type 1 diabetes presentation. The patient is a 1-year-old boy who prese...