cerebral creatine deficiency syndrome 1

A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.

Signs and symptoms

• Intellectual disability
• Global developmental delay
• Reduced brain creatine level by MRS
• Elevated circulating creatine concentration
• Microcephaly
• Speech apraxia
• Short stature
• Dystonia
• Seizure
• Aggressive behavior

Also known as: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 deficiency; creatine transporter deficiency