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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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