Creatine transporter deficiency
Creatine transporter deficiency
Definition
X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
Also known as cerebral creatine deficiency syndrome 1, cerebral creatine deficiency syndrome 1, X-linked recessive, cerebral creatine deficiency syndrome type 1, creatine transporter deficiency, SLC6A8 deficiency — per MONDO