Glucose Transporter 1 Deficiency

Description:
This deficiency mainly affects the brain and patients usually have seizures, which occur in the first few months of their life.

Other Names & Associated Gene Mutations

  • GLUT 1
  • SLC2A1

    • Associated Gene Mutations

    At this time there are no widely accepted gene mutations that are identified with this syndrome.

    1) URL: http://www.ncbi.nlm.nih.gov/pubmed/19515520
    Associated members:
    - Pierangelo Veggiotti , Federica Teutonico, Enrico Alfel, Valentina De Giorgisand Umberto Balottinhttp: Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico “C.Mondino”, Via Mondino, 2, 27100 Pavia, Italy
    - Nardo Nardocci, Giovanna Zorzi: Department of Child Neurology, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” Milan, Italy

    2) URL: http://www.ncbi.nlm.nih.gov/pubmed/17869467
    Associated members:
    - Susumu Ito, Hirokazu Oguni, Yasushi Ito, Keiko Ishigaki, Makiko Osawa: Department of Pediatrics, Tokyo Women’s Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan
    Junko Ohinata: Department of Pediatrics, Asahikawa Medical College, 2-1-1-1, Midorigaoka-Higashi, Asahikawa-shi, Hokkaido 078-8510, Japan

    3) URL: http://www.ncbi.nlm.nih.gov/pubmed/17657332
    Associated Members:
    - Verónica Cornejo:Laboratorio de Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Nutricionista, Magíster en Nutrición Humana
    - Juan Francisco Cabello A and Erna Raimann: Laboratorio de Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile
    - Marta Colombo C: Laboratorio de Enfermedades Metabólicas, Hospital Van Burén, Valparaíso