GLUT1 deficiency syndrome

Pathology

• defect in glucose transport across the blood-brain barrier

Genetics

• autosomal dominant form associated with defects in SLC2A1 (GLUT1)

Clinical manifestations

• infantile seizures
• delayed development
• acquired microcephaly

Management

• triheptanoin (Dojolvi) used experimentally to treat GLUT1 deficiency syndrome

More general terms

• carbohydrate inborn error of metabolism
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/606777