FIGURE 1.

Relationship between patient birth year and age of Cerebral Creatine Deficiency Syndromes (CCDS) diagnosis. Improved access to genetic testing and increased newborn screening of guanidinoacetate methyltransferase (GAMT) deficiency has resulted in CCDS patients (n = 111) being diagnosed earlier in their lives, permitting greater opportunity for earlier treatment. The curved line is a two-parameter, exponential descriptive trend line, highlighting the increasing likelihood of detecting a CCDS in younger children.