Patient Resources

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Navigating a diagnosis of Cerebral Creatine Deficiency Syndromes (CCDS) can feel overwhelming. The resources below are designed to help patients, caregivers, and families better understand creatine deficiencies and connect with the information they need.

In this resource center, you’ll find educational guides, research updates, clinical information, and practical tools created by experts and the CCDS community. These materials cover the three known creatine deficiency disorders—Creatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase (GAMT) Deficiency, and Arginine:Glycine Amidinotransferase (AGAT) Deficiency.

Whether you are newly diagnosed, seeking clinical information, or looking for support resources, these tools are intended to help you better understand the condition and make informed decisions with your healthcare team.

You’ll also find information about the CreatineInfo Patient Registry, a global initiative that allows patients and caregivers to contribute data that helps researchers better understand how these rare disorders develop and progress over time.

Guide to Understanding CCDS Brochure

AGAT, GAMT, and CTD symptom and diagnosis information designed for caregivers, diagnosing physicians, and others seeking a better understanding of Cerebral Creatine Deficiency Syndromes.

Ein Leitfaden zum Verständnis von CCDS Zerebralen Kreatinmangelsyndromen

German Guide to Understanding CCDS Brochure

Handleiding en uitleg van CCDS Cerebrale Creatine Deficiëntie Syndromen

Outreach Brochure

Overview brochure of the mission of ACD. Great for fundraising and building awareness.

*For hard copies of our brochures, email info@creatineinfo.org.

Drug Repurposing Fellowships

This essay was written by Erin Coller, ACD Director of Communications, with support from Laura Trutoiu, ACD Director of Research, and Sangeetha Iyer, ACD Scientific Advisor.

CCDS Gene Therapy Research

This essay was written by Laura Trutoiu, ACD Director of Research, with support from Erin Coller, ACD Director of Communications, and Sangeetha Iyer, ACD Scientific Advisor.

Featured Scientist, Dr. Jonathan Schlebach PhD

This essay was written by Celeste Graham, ACD Director of Education, with the support of Sangeetha Iyer, ACD Scientific Advisor.

Behavior Support and the First ACD Webinar for Parents

This essay was written by Celeste Graham, ACD Director of Education with support from Laura Trutoiu, ACD Director of Research and Heidi Wallis, ACD President.

Pharmacochaperoning & CTD Research Participation

This essay was written by Erin Coller with the support of Laura Trutoiu, Director of Research, and Sangeetha Iyer, ACD Scientific Advisor.

JoMar Labs Amino Acid Discount

JoMar Labs offers a discount to CCDS families for supplements including creatine and l-ornithine-HCL. To set up an account and verify that you are an “ACD family” with a child with a CCDS, call JoMar at 1-800-538-4545.

Creapure Creatine

Information on Creapure Creatine Monohydrate is provided by the manufacturer and includes links to suppliers in many countries.

Compounding Formulas

The following are provided by a pharmacy that has been compounding L-Ornithine and Sodium Benzoate for many years. Please do not attempt to do this at home. Ask your child’s prescribing physician to approve these instructions and then take them to a qualified compounding pharmacy. Due to added ingredients, your compounding pharmacy and physician will need to agree upon the correct dosage for your child to reach their required treatment dosage.

Ramblin’ Rare

Ramblin’ Rare is a podcast about rare diseases, the families they impact, and scientists aiming to change their world through their work. Sponsored by the Association for Creatine Deficiencies. Look for “Ramblin’ Rare” wherever you get your podcasts!


Inclusion of particular professionals, services, products, or organizations is provided as a helpful resource and does not imply endorsement by the ACD. Initiating treatment and/or making changes to a treatment plan should always be done under the care of a qualified physician. Do not attempt to self-diagnose or self-treat a creatine deficiency.