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Creatine Transporter Deficiency (CTD)

What is creatine transporter deficiency?

Creatine transporter deficiency (CTD) is one of the three creatine deficiency syndromes; creatine is needed to create the energy for brain and muscle development. 

What are the symptoms of creatine transporter deficiency?

The severity of symptoms vary between affected individuals, and symptoms include:

  • Developmental delays
  • Intellectual disability
  • Delays in speech
  • Seizures
  • Autism-like symptoms
  • Muscle weakness
  • Issues with the gastrointestinal system
  • Behavior disorders
  • Hyperactivity
  • Failure to thrive
  • Fatigue 

What causes creatine transporter deficiency?

The SLC6A8 gene is mutated in those with CTD, and it is inherited in an X-linked pattern. The mutation blocks an adequate amount of creatine from getting to the brain. 

How is creatine transporter deficiency diagnosed?

Doctors will use both plasma and urine tests to diagnose this disorder. CTD can also be diagnosed through genetic testing and MRI with spectroscopy. 

What are the treatments for creatine transporter deficiency?

A team of specialists is often required to treat CTD. While the other two forms of creatine deficiency syndromes are often successfully treated with creatine monohydrate, this condition does not often see positive results. Fortunately, there are treatments being investigated. 

Where can I find out more about creatine transporter deficiency?

CTD Articles