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 MRI spectroscopies 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.
