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G1D - Glucose transporter type 1 deficiency syndrome



1. G1D 101- An Introduction
  1. What is GLUT1 deficiency syndrome?
  2. What are some other common symptoms of G1D?
  3. Less common symptoms of G1D include
  4. How common is G1D?
  5. How is the diagnosis of G1D made?
  6. What causes G1D?
  7. Is G1D inherited?
2. Treatment of G1D - Is there a cure or treatment for individuals diagnosed with G1D?
  1. Can G1D be treated?
  2. What is the ketogenic diet and how does it work?
  3. Are there side effects from the ketogenic diet?
  4. Are there any experimental treatments that may help control seizures in G1D?
  5. Are there any medications or supplements to avoid?
3. Common questions after the diagnosis of G1D
  1. What happens once a diagnosis of G1D is made?
  2. How will my child develop?
  3. Are G1D patients prone to other diseases?
  4. Are there side effects from the ketogenic diet?
  5. Does the ketogenic diet need to be maintained for life?
  6. Could G1D have been prevented?
  7. Will there ever be a cure for G1D?
4. G1D Research
  1. Research on animal models of G1D
  2. Research on G1D patients
  3. Research relevant to genetic brain disorders in general
  4. How can I contribute to research?
5. Movement disorders in G1D
  1. What are movement disorders?
  2. What movement disorders are seen in G1D?
  3. Can G1D cause movement disorders and also seizures?
  4. How are G1D movement disorders treated?
6. G1D Resources - What resources are available to G1D patients?
  1. G1D medical and diagnostic referral laboratory information General information
  2. G1D disease information for patients and caretakers
  3. Voluntary G1D patient registry
  4. Advocacy information
  5. Professional information

a. G1D medical and diagnostic referral laboratory information General information:

General information: Collaboration, Education, and Test Translation (CETT) Program for Rare Genetic Diseases NIH Office of Rare Diseases Research

G1D genetic diagnosis (CETT program): The Child Brain Foundation: www.ChildBrainFoundation.org

b. G1D disease information for patients and caretakers

c. G1D patient registry. (Coming Soon)

d. Advocacy information

e. Professional information

  • GeneReviews - Periodically updated clinical summary and testing options
  • PubMed - Recent literature, searchable by keyword, author or publication title
  • OMIM - Genetic disorder catalog
DISCLAIMER

All the information contained herein was made possible by the collaboration between The Child Brain Foundation, Dr. Juan M. Pascual, and The National Institute of Health's Office of Rare Diseases Research (Collaboration, Education and Test Translation Program).

You may not commercially exploit any of the contents. Any redistribution or reproduction of part or all of the contents in any form is allowed and encouraged and proper acknowledgement is urged. To properly acknowledge the information contained here, please add the following to any excerpt or copy:

"We acknowledge The Child Brain Foundation, www.childbrainfoundation.org, as the organizer, Dr. Juan Pascual as the author, and The National Institute of Health's Office of Rare Diseases Research (Collaboration, Education and Test Translation program, CETT Program) as the sponsor of this information."

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