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