Glut1 Deficiency Syndrome and Diabetes Mellitus Type 1: Review of the Literature and Presentation of a New Case

Background/Purpose: Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare metabolic disorder that leads to an encephalopathy due to disturbed glucose transport via the blood–brain barrier and consecutive energy deficit of the brain. Symptoms are early-onset epilepsy, complex movement disorders and developmental delay. The ketogenic dietary therapy (KDT) is the first-line therapy and includes classic ketogenic diet and modified Atkins diet (MAD). Ketone bodies are an alternative fuel for the brain. KDT leads to ketosis and ensures energy supply of the brain.

Case Report: We describe a 15-year-old girl with Glut1DS treated effectively with modified Atkins diet who developed diabetes mellitus type 1 (T1DM) with diabetic ketoacidosis. Insulin pump was initiated while staying on MAD. With this treatment regimen no further diabetic ketoacidosis occurred and HbA1c was 7%. She kept ketosis in a range between 1.5 and 2.5 mmol/L β-hydroxybutyrate without any neurologic symptoms.

In literature, there are three cases of patients with T1DM treated with insulin who are on KDT at the same time because of therapy refractory epilepsy or pyruvate dehydrogenase deficiency, but none with Glut1DS. In all cases, a moderate ketosis was kept and admission of insulin was tried to keep as low as possible.

Conclusion: Treatment of Glut1DS with MAD and T1DM with insulin at the same time is challenging but feasible. It is important to keep ketosis while being aware of ketoacidosis.

Publication History

Article published online:
28 October 2021