GLUT1 deficiency syndrome and ketogenic diet therapies: Missing rare but treatable diseases?

Developmental Medicine and Child Neurology

Volumn 57, Issue 10, 2015, Pages 896-897

  Klepper, Joerg ^a  

^a KLINIKUM ASCHAFFENBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1; GLUCOSE TRANSPORTER;

BENIGN CHILDHOOD EPILEPSY; BRAIN; CEREBROSPINAL FLUID; DIAGNOSTIC TEST; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; GLYCEMIC INDEX; HUMAN; KETOGENIC DIET; NOTE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEFICIENCY; SEIZURE; TREATMENT RESPONSE; DEFICIENCY; DIET THERAPY; DISORDERS OF CARBOHYDRATE METABOLISM; EPILEPSY; FEMALE; GENETICS; MALE;

CARBOHYDRATE METABOLISM, INBORN ERRORS; EPILEPSY; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; KETOGENIC DIET; MALE; MONOSACCHARIDE TRANSPORT PROTEINS;

EID: 84940959315     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12807     Document Type: Note

References (5)

1. Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010; 133: 655-70.
2. Schoeler NE, Cross JH, Drury S, et al. Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor. Dev Med Child Neurol 2015; doi:10.1111/dmcn.12781.
3. Ito Y, Takahashi S, Kagitani-Shimono K, et al. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain Dev 2014; pii: S0387-7604(14)00267-8.
4. Paoli A, Rubini A, Volek JS, Grimaldi KA. Beyond weight loss: a review of the therapeutic uses of very-low-carbohydrate (ketogenic) diets. Eur J Clin Nutr 2013; 67: 789-96.
5. Klepper J. Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome. Neuropediatrics 2013; 44: 235-6.