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L-Arginine:Glycine Amidinotransferase (AGAT) Deficiency

What is L-arginine:glycine amidinotransferase (AGAT) deficiency?

AGAT deficiency is a rare condition that affects the brain, and is defined as a creatine deficiency syndrome. With only about 20 cases reported throughout the world, there is a lot more that needs to be researched. 

What are the symptoms of L-arginine:glycine amidinotransferase (AGAT) deficiency?

Severity and present symptoms can vary between affected individuals. These symptoms include:

  • Delayed speech
  • Intellectual disabilities
  • Seizures
  • Autistic-like behaviors
  • Failure to thrive
  • Weak muscle tone
  • Low energy
  • Delayed development of motor skills

What causes L-arginine:glycine amidinotransferase (AGAT) deficiency?

A mutated GATM gene is responsible for this condition, and it is inherited in an autosomal recessive pattern. The mutation stops the first step in creatine production. 

How is L-arginine:glycine amidinotransferase (AGAT) deficiency diagnosed?

Plasma and urine tests are used to diagnose this condition. Doctors may also use MRIs and genetic testing. 

What are the treatments for L-arginine:glycine amidinotransferase (AGAT) deficiency?

Treatment is the most effective if administered early in life. Oral creatine monohydrate replenishes creatine levels in the brain. A team of specialists may be needed to manage all symptoms. 

Where can I find out more about L-arginine:glycine amidinotransferase (AGAT) deficiency?

AGAT Deficiency Articles

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