Guanidinoacetate methyltransferase (GAMT) deficiency is a rare genetic disorder that affects the metabolism of creatine, an important molecule in the body. It is caused by a mutation in the GAMT gene, which is responsible for producing an enzyme that helps to convert guanidinoacetate into creatine. People with GAMT deficiency have low levels of creatine in their bodies, which can lead to a variety of neurological and physical symptoms. These can include intellectual disability, seizures, movement disorders, and muscle weakness. Treatment typically involves dietary supplementation with creatine and other medications.

The symptoms of Guanidinoacetate Methyltransferase Deficiency (GAMT) vary from person to person, but can include:

-Developmental delay

-Seizures

-Movement disorders

-Speech and language delays

-Behavioral problems

-Intellectual disability

-Growth delays

-Feeding difficulties

-Hearing loss

-Vision problems

-Muscle weakness

-Abnormalities of the brain and spinal cord

-Abnormalities of the heart and blood vessels

-Abnormalities of the kidneys and urinary tract

-Abnormalities of the skin, hair, and nails

Guanidinoacetate Methyltransferase Deficiency (GAMT) is an inherited disorder caused by mutations in the GAMT gene. These mutations lead to a deficiency of the enzyme guanidinoacetate methyltransferase, which is responsible for the conversion of guanidinoacetate to creatine. Creatine is an important molecule for energy production in the body. Without it, the body cannot produce enough energy to function properly. As a result, people with GAMT deficiency experience a variety of symptoms, including intellectual disability, seizures, and movement disorders.

1. Dietary therapy: Dietary therapy is the primary treatment for Guanidinoacetate Methyltransferase Deficiency. This involves a low-protein diet supplemented with essential amino acids and other nutrients.

2. Enzyme replacement therapy: Enzyme replacement therapy is a promising treatment for Guanidinoacetate Methyltransferase Deficiency. This involves the administration of a recombinant form of the enzyme to replace the missing enzyme in the body.

3. Gene therapy: Gene therapy is a potential treatment for Guanidinoacetate Methyltransferase Deficiency. This involves the introduction of a healthy copy of the gene into the patient’s cells to replace the defective gene.

4. Nutritional supplements: Nutritional supplements may be recommended to help manage the symptoms of Guanidinoacetate Methyltransferase Deficiency. These

1. Family history of the disorder
2. Being of Ashkenazi Jewish descent
3. Being male
4. Exposure to certain environmental toxins
5. Maternal diabetes or obesity during pregnancy
6. Advanced maternal age at time of conception
7. Low birth weight
8. Premature birth

Yes, there is a medication available for Guanidinoacetate Methyltransferase Deficiency. The medication is called sapropterin dihydrochloride (Kuvan) and it is used to help reduce the amount of ammonia in the blood. It is important to note that this medication does not cure the condition, but it can help to reduce the symptoms and improve quality of life.