Be a Holiday Hero: Help us Find Treatments for CCDS
Cerebral Creatine Deficiency Syndromes (CCDS) are a group of inborn errors of creatine metabolism including AGAT, CTD, and GAMT. Symptoms may include: intellectual delays, expressive speech and language delay, autistic-like behavior, hyperactivity, seizures, projectile vomiting in infancy, failure to thrive, and movement disorders.
Creatine helps supply energy to all cells in the body. It helps increase adenosine triphosphate (ATP).
Creatine is produced in the liver, which makes it out of three amino acids: arginine, glycine and methionine. Most of our body's creatine (approximately 95%) is stored in the muscles that support the skeleton.
I recently joined the ACD as the new Programs Coordinator, and as part of my orientation experience, I had the amazing opportunity to participate in the 2020 Global Genes LIVE virtual conference. This event was not only educational but incredibly inspirational. I learned so much and came away from the experience with a greater understanding of why we do what we do at the ACD. I would love to share some of my highlights and takeaways with you!