cerebral creatine deficiency syndrome

Cerebral creatine deficiency syndrome (CCDS) is a group of metabolic disorders where the body has difficulty producing or transporting creatine. Creatine is important for energy storage in cells, especially in the brain and muscles. This condition is linked to global developmental delays and intellectual disability, and it can affect a person’s neurological and behavioral health. CCDS includes different disorders such as two creatine biosynthesis issues—guanidinoacetate methyltransferase deficiency and L-Arginine: glycine amidinotransferase deficiency—along with an X-linked creatine transporter deficiency. These issues lead to problems with the normal development and functioning of the brain and muscles.

People with cerebral creatine deficiency syndrome often experience global developmental delay and intellectual disability. They may also have neurological symptoms such as seizures, movement disorders, and muscle weakness (myopathy), along with various behavioral manifestations.

Cerebral creatine deficiency syndrome is caused by errors in the body’s creatine metabolism. This includes two disorders that affect how creatine is made—guanidinoacetate methyltransferase deficiency and L-Arginine: glycine amidinotransferase deficiency—as well as an X-linked creatine transporter deficiency. These genetic conditions affect creatine production or transport, leading to reduced creatine levels in the brain and muscles.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.