Overview of Cerebral Creatine Deficiency Syndromes

DSC_1187-300x199

Cerebral Creatine Deficiency Syndromes (CCDS) are inborn errors of metabolism, which interrupt the formation or transportation of creatine. Creatine is necessary to increase adenosine triphosphate (ATP), which provides energy to all the cells in the body. Creatine is essential to sustain the high energy levels needed for muscle and brain development.

There are three Cerebral Creatine Deficiency Syndromes:

Symptoms

Symptoms can include, but are not limited to: developmental delay, hypotonia, movement disorders, feeding intolerances, hyperactivity, expressive speech delay, language delay, seizures, or autistic-like behavior. It is encouraged that an individual with any of these presentations be screened for CCDS as early as possible. Click here for screening information.

CCDS patients are frequently misdiagnosed with cerebral palsy as infants and as toddlers. Also, as autism or developmental delay in children.

Prevalence

The exact prevalence of Cerebral Creatine Deficiency Syndromes is unknown. Yet, sources estimate that approximately 1% of individuals with intellectual disabilities of unknown origin may have a Cerebral Creatine Deficiency Syndrome. It is also estimated that Creatine Transporter Deficiency (CTD) represents the second largest cause of x-linked mental disability behind Fragile X syndrome.