The Association for Creatine Deficiencies (ACD) is a growing parent-led advocacy organization that provides patient, family, and public education to advocate for early diagnosis of cerebral creatine deficiency syndromes (CCDS) and to advance research for much-needed treatments and cures.
ACD was established in 2012 by parents of children diagnosed with a CCDS who decided these rare diseases need a unified community to affect change for the future. CCDS are inborn errors of metabolism, which interrupt the formation or transportation of creatine. Creatine helps supply energy to all cells in the body. Symptoms may include intellectual delays, gross motor delays, expressive speech and language delay, autistic-like behavior, hyperactivity, seizures, projectile vomiting in infancy, and failure to thrive. ACD is dedicated to the three CCDS:
Creatine Transporter Deficiency (CTD)
Guanidinoacetate Methyltransferase (GAMT) Deficiency
ACD leaders know they can’t afford to be bystanders in the research process waiting on developments from the medical field. As such, the organization is committed to being an active player in research and fostering a symbiotic collaboration where researchers and parents work together. With three rare diseases under one umbrella, the ACD is leveraging the power of a stronger, united community to drive research. For more information, visit www.creatineinfo.org.