title: Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.
abstract: Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GLUT-1 gene mutation on chromosome 1. The classic phenotype is a severe form of early onset epileptic encephalopathy, but patient with different clinical presentation have been reported expanding the clinical spectrum. In particular, many patients show a prominent movement disorder other than epilepsy. It is known that this disease represents a treatable condition and ketogenic diet (KD) is the elective treatment in GLUT-1 DS patients. We report on KD in three unrelated Italian GLUT-1 DS female patients, diagnosed in early adulthood, all presenting with an atypical phenotype. Preliminary results seem to demonstrate efficacy of KD on paroxysmal movement disorder while positive effect on cognitive impairment result less evident.
authors.affiliation: Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico C.Mondino, Pavia, Italy. pveggiot@unipv.it
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Veggiotti
authors.forename: Federica
authors.initials: F
authors.lastname: Teutonico
authors.forename: Enrico
authors.initials: E
authors.lastname: Alfei
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.forename: Anna
authors.initials: A
authors.lastname: Tagliabue
authors.forename: Valentina
authors.initials: V
authors.lastname: De Giorgis
authors.forename: Umberto
authors.initials: U
authors.lastname: Balottin
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy / Q000503:physiopathology; D002648:Child; D055423:Diet, Ketogenic; D004569:Electroencephalography; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D010641:Phenotype; D055815:Young Adult
chemical_list: D051272:Glucose Transporter Type 1