ScreenCreatine ToolKit

Click on the below LINKS to download helpful infographics and booklets on CCDS- Cerebral Creatine Deficiency Syndromes.

Tracking Creatine Deficiency Booklet

Here is a booklet to help you gather your loved one’s CCDS symptoms and behaviors in one place. And lab results too! It will help you tell your CCDS Story.
Share this story, filled with valuable knowledge and information, with your doctor to help him/her diagnose, treat and manage your loved one.
For those still seeking a diagnosis, it may also help your doctor’s team better understand if your loved one’s signs and symptoms are related to CCDS.
It can be especially helpful if you are referred out to other physicians and/or hospitals.

Tracking CCDS booklet Color version/

CCDS Tracking Booklet - B& W digital download

CCDS Infographic- What is Creatine?

Why is creatine important for our health? How is creatine made in the body? And how does it get to the brain to help with intellectual performance?
Here is a one-page infographic that will help explain with easy to understand drawings the 3 step process the body takes to make creatine and deliver it to the brain. It also shows when there is a problem with one of these steps and how this translates into one of the 3 CCDS disorders. 

A Visual Guide to CCDS

This is a 4 page piece that incorporates the CCDS infographic and explains more about the symptoms of the AGAT, GAMT, and CTD plus the inheritance patterns of these diseases.
English and Spanish versions available.

 

 

Resources for CTD and Other Creatine Disorders


Association for Creatine Deficiencies (ACD)
International English speaking patient organization focussed on the 3 Cerebral Creatine Deficiencies Syndromes

Home Page: https://creatineinfo.org/

Patient Registry: https://creatineinfo.org/patient-registry/


Xtraordinaire
International French/English speaking patient organization focussed on X-linked intellectual disability disorders 

Home Page: https://xtraordinaire.org/


Genetic & Rare Diseases Information Center (GARD)
The Genetic and Rare Diseases (GARD) Information Center is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy to understand information about rare or genetic diseases in English or Spanish.

CTD: https://rarediseases.info.nih.gov/diseases/1608/x-linked-creatine-deficiency

GAMT deficiency: https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency

AGAT deficiency: https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency


U.S. National Library of Medicine | Genetics Home Reference
Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Genetics Home Reference is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health, an agency of the U.S. Department of Health and Human Services.

CTD: https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency#

GAMT deficiency: https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency

AGAT deficiency: https://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency


Child Neurology Foundation
The Child Neurology Foundation connects partners from all areas of the child neurology community so those navigating the journey of disease diagnosis, management, and care have the ongoing support of those dedicated to treatments and cures.

Home Page:http://www.childneurologyfoundation.org/

Creatine transporter deficiency: http://www.childneurologyfoundation.org/disorders/creatine-transporter-deficiency-ctd/


Orfanet

Creatine transporter deficiency: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=52503


Baby’s First Test

Provides information and resources about newborn screening at the local, state and national levels.

www.babysfirsttest.org

Additional Resources


Medline Plus

MEDLINE® contains journal citations and abstracts for biomedical literature from around the world.  PubMed® provides free access to MEDLINE and links.

Intellectual Disability: https://medlineplus.gov/ency/article/001523.htm


The Arc | For people with intellectual and developmental disabilities

Large community-based organization for people with intellectual and developmental disabilities. Educates, connects people with support services, and advocates for individuals with intellectual and developmental disabilities.

www.thearc.org


Autism Science Foundation

The Autism Science Foundation’s mission is to support autism research by providing funding and other assistance to scientists and organizations conducting, facilitating, publicizing and disseminating autism research. The organization also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism.

http://autismsciencefoundation.org/


Autism Speaks

Autism Speaks is dedicated to promoting solutions, across the spectrum and throughout the lifespan, for the needs of individuals with autism and their families through advocacy and support; increasing understanding and acceptance of autism spectrum disorder; and advancing research into causes and better interventions for autism spectrum disorder and related conditions.

https://www.autismspeaks.org/


Epilepsy Foundation

Provides information on research, education, advocacy, and services for children and adults affected by seizures.

www.epilepsy.com


Tracking Creatine Deficiency PDF

Informative document for patients and their doctors.

Download PDF