Creatine deficiency syndrome

Creatine deficiency syndrome (also called cerebral creatine deficiency syndrome) is a group of inherited metabolic disorders where the body cannot make or transport creatine properly. Creatine is a natural substance that helps supply energy to the brain and muscles. Without enough creatine reaching the brain, the nervous system cannot work as it should. There are three main types: guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency, and creatine transporter deficiency (CTD, also called SLC6A8 deficiency). All three types share many of the same symptoms but are caused by problems in different genes. The most common features include intellectual disability, delayed speech and language development, behavioral problems, seizures, and low muscle tone. The good news is that two of the three types — GAMT deficiency and AGAT deficiency — can be treated with creatine supplements, and early treatment can prevent or reduce brain damage. Creatine transporter deficiency is harder to treat, and researchers are actively working on new therapies. Early diagnosis through newborn screening or genetic testing is very important for the best outcomes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Which specific type of creatine deficiency does my child have, and how does that affect treatment options?,How soon should we start creatine supplementation, and what dose is right?,Does my child need a special diet, and do we need to see a dietitian?,What developmental therapies do you recommend, and how often should we do them?,Should other family members be tested, including siblings or the mother if CTD is suspected?,Are there any clinical trials for creatine transporter deficiency that we should consider?,What signs should prompt us to call you or go to the emergency room?

Common questions about Creatine deficiency syndrome