View and share our newly released Creatine Deficiency Syndrome Video.
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.
Kim Tuminello, Director of Advocacy for ACD, recently sat down with Dr. Ruben Bonilla Guerrero, who is the Medical Director of Medical Affairs for Admera Health, to talk about his professional background, his current position, and how pharmacogenomics (PGx) could possibly help the CCDS community. Continue reading
Standing in front of my kitchen sink in the cold, blue, January dawn, I run the warm water to wipe off my son’s face before he heads off to high school. The washcloth steams visibly in the frigid morning air as I carefully wipe off Benny’s face, getting off any traces of breakfast or sleepy eyes. He turns 15 in a week. I realize that I have to reach up to wipe off his face. He’s now taller than I am. I’m struck by the poignancy of this moment. Continue reading
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