Positive impact of a modified Atkins diet on cognition, seizure control, and abnormal movements in an adult with glucose transporter type 1 deficiency syndrome: case report

Excerpt

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a genetic disorder that impairs glucose transport across the blood–brain barrier. The reduction in glucose may trigger pharmaco-resistant epilepsy and reduced brain growth and cause developmental delay and characteristic movement disorders such as ataxia, dystonia, and paroxysmal exertional dyskinesia [1]. In the majority of individuals, GLUT1DS is an autosomal dominant disorder caused by a pathogenic variant in the SLC2A1 gene, accompanied characteristic phenotypes, and hypoglycorrhachia. While patients may present with mild neurologic illness, early absence seizures are the primary presenting symptom (typically begin in infancy), although tonic–clonic, myoclonic, and atonic seizures have been observed. Seizures have been described to decline or resolve when patients reach adulthood [1]. Movement disorders may be precipitated by exercise. GLUT1DS may also produce mild to severe intellectual disability and language and speech dysfunction. …