Glucose Transporter Type I Deficiency Syndrome (Glut DS)

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

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