Glucose transporter protein type 1 deficiency

This code identifies a rare genetic metabolic disorder characterized by impaired glucose transport across the blood-brain barrier. Patients typically present with a range of neurological symptoms, including seizures, developmental delay, and complex movement disorders, due to chronic cerebral energy deficiency.

Use this code for patients diagnosed with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS), also known as De Vivo disease. Documentation should clearly indicate genetic testing confirming a pathogenic variant in the SLC2A1 gene or a strong clinical suspicion supported by cerebrospinal fluid (CSF) analysis showing low glucose in the presence of normal blood glucose.

• Ensure documentation specifies "type 1" deficiency to differentiate from other glucose transporter defects.
• Do not confuse with other inborn errors of metabolism affecting glucose utilization, such as glycogen storage diseases.
• Consider sequencing with codes for associated neurological manifestations, such as epilepsy (G40.-) or developmental delays (F88, F89).