Summary about Disease
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare, inherited metabolic disorder that affects the brain and muscles. It is caused by a lack of the enzyme GAMT, which is essential for the production of creatine. Creatine is vital for energy storage and utilization, especially in the brain and muscles. Without enough creatine, these tissues don't function properly, leading to a range of neurological and muscular symptoms.
Symptoms
Symptoms can vary in severity and onset, but commonly include:
Intellectual disability/Developmental delay
Speech delay
Seizures (often the first noticeable symptom)
Muscle weakness (hypotonia)
Movement disorders (e.g., ataxia, dystonia)
Autistic-like behaviors
Causes
GAMT deficiency is caused by mutations in the GAMT gene. This gene provides instructions for making the GAMT enzyme. The condition is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
The primary treatment involves creatine monohydrate supplementation to replenish creatine levels in the brain and muscles. Other medications may be used to manage specific symptoms, such as anti-seizure medications to control seizures. Ornithine supplementation may also be used to reduce guanidinoacetate levels.
Is Communicable
No, GAMT deficiency is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Precautions mainly involve adhering to the prescribed treatment plan, including creatine supplementation and other medications, as directed by a medical professional. Regular monitoring of creatine levels and overall health is also essential. Genetic counseling is recommended for families with a history of GAMT deficiency.
How long does an outbreak last?
GAMT deficiency is not an infectious disease and does not have "outbreaks." It is a chronic condition that requires lifelong management.
How is it diagnosed?
Diagnosis typically involves:
Newborn screening (in some regions)
Blood and urine tests: Elevated guanidinoacetate levels and low creatine levels are indicative.
Magnetic resonance spectroscopy (MRS) of the brain: Shows decreased creatine levels in the brain.
Genetic testing: Confirms the diagnosis by identifying mutations in the GAMT gene.
Timeline of Symptoms
The timeline of symptoms can vary. Some individuals may present with seizures in infancy, while others may have a later onset of developmental delay or other neurological problems. Symptoms generally become apparent in infancy or early childhood.
Important Considerations
Early diagnosis and treatment are crucial to improve outcomes and minimize the severity of long-term complications.
Lifelong monitoring and management are necessary.
Genetic counseling is recommended for families at risk.
The condition may present differently in different individuals.
Research is ongoing to better understand and treat GAMT deficiency.