title: Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
abstract: Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In particular, there has been greater recognition of milder phenotypes. Absence epilepsy and other idiopathic generalized epilepsy syndromes may occur with seizure onset in childhood or adulthood. A number of patients present predominantly with movement disorders, sometimes without any accompanying seizures. In particular, paroxysmal exertional dyskinesia is now a well-documented clinical feature that occurs in individuals with Glut1 DS. A clue to the diagnosis in patients with paroxysmal symptoms may be the triggering of episodes during fasting or exercise. Intellectual impairment may range from severe to very mild. Awareness of the broad range of potential clinical phenotypes associated with Glut1 DS will facilitate earlier diagnosis of this treatable neurologic condition. The ketogenic diet is the mainstay of treatment and nourishes the starving symptomatic brain during development.
authors: Department of Neurology, Columbia University, 710 west 168th Street, New York, NY 10032, USA.
authors: Toni S
authors: TS
authors: Pearson
authors: Cigdem
authors: C
authors: Akman
authors: Veronica J
authors: VJ
authors: Hinton
authors: Kristin
authors: K
authors: Engelstad
authors: Darryl C
authors: DC
authors: De Vivo
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001786:Blood Glucose / Q000378:metabolism; D001812:Blood-Brain Barrier; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D055423:Diet, Ketogenic; D020821:Dystonic Disorders / Q000235:genetics; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics / Q000517:prevention & control; D018740:Genetic Heterogeneity; D005838:Genotype; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007806:Language Disorders / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics; D009069:Movement Disorders / Q000235:genetics; D009128:Muscle Spasticity / Q000235:genetics; D010641:Phenotype
chemical_list: D000927:Anticonvulsants; D001786:Blood Glucose; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human