Cure Creatine Deficiencies
The Association for Creatine Deficiencies (ACD) is an international nonprofit organization dedicated to the three Cerebral Creatine Deficiency Syndromes: CTD, GAMT and AGAT.
"I haven't walked away from my mission."
Beast Games champion and ACD board member Jeff Allen returns for Beast Games Season 2, using his success to drive awareness and fund the fight for a CCDS cure.
Resources for Newly Diagnosed Families
The ACD Family Network is a supportive, international network of families affected by CCDS. We are a parent-led nonprofit organization with Global Ambassadors ready to connect with you to provide localized support and resources.
Explore CCDS Resources
Cerebral Creatine Deficiency Syndromes
Creatine Transporter Deficiency (CTD)
Guanidinoacetate Methyltransferase (GAMT) Deficiency
L-Arginine:Glycine Amidinotransferase (AGAT) Deficiency
ACD Family Stories
Living and Learning with GAMT After Jade was born in 1987, our family underwent major changes while working with early intervention therapists and searching for answers, all within efforts to maintain equilibrium in our lives. The phrase "Happy Jade, happy life" soon replaced the traditional adage, “Happy wife, happy life.” We observed
Read More
Xavier’s Story Xavier is a happy 14 year old who loves Muppets and PBS Kids shows, playing with his magnet tiles, and going for walks with his parents and brother. He plays basketball and bocce with his school’s Unified Sports program and participates in the Special Olympics game day each spring. Diagnosed
Read More
Allison’s Story Allison loves her dog, Zeus, cheering on her sister’s soccer team, along with the KU Jayhawks and KC Royals and KC Chiefs! Allison is amazing with puzzles. She enjoys movies and music and loves church! Ally has a contagious giggle and warm personality. She never forgets a friend and
Read More
Ty and Paige’s Story Like most families, life at the Tuminello house is often busy with school, sports and fun, but it’s not the life we expected either. The birth of our first child was met with excitement and high hopes for the future, but that was quickly dashed away when
Read MoreOur Research Efforts
ACD is committed to fostering and supporting a thriving research community for Cerebral Creatine Deficiency Syndromes (CCDS). As parents, our motivation to see treatments for our children is urgent and unstoppable.
Our research strategy is to fund, build, and share tools and resources that accelerate the discovery of treatments for creatine deficiencies.
ACD & our network of research partners are working to find a cure for CCDS at these institutions and others:
Newborn Screening
Newborn screening (NBS) is the collection of blood drops from a newborn’s heel onto a card of filter paper to screen for disorders that require immediate treatment. ACD supports the continued adoption of GAMT Deficiency and the research of plausibility for CTD and AGAT newborn screening. GAMT was added to the U.S. RUSP in 2023.
“Once I joined this group, and started to realize there are doctors and scientists working on a treatment for CTD, I started to see light and to feel hope.”
Thank you for supporting us in our mission to provide patient, family, and public education, to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Cerebral Creatine Deficiency Syndromes. Your donation supports PatientStrong, our general fund that drives all ACD initiatives. Learn more about our initiatives here.
