Creatine transporter deficiency (CTD) is a rare genetic disorder caused by a mutation in the SLC6A8 gene. It is characterized by a deficiency in the creatine transporter, which is responsible for transporting creatine into cells. Symptoms of CTD include intellectual disability, seizures, and movement disorders. Treatment typically involves dietary supplementation with creatine and other medications to manage symptoms.

The symptoms of Creatine Transporter Deficiency can vary from person to person, but may include:

-Developmental delay

-Intellectual disability

-Seizures

-Movement disorders

-Feeding difficulties

-Growth retardation

-Muscle weakness

-Hypotonia

-Speech delay

-Behavioral problems

-Hearing loss

-Vision problems

-Kidney problems

Creatine transporter deficiency is a rare genetic disorder caused by mutations in the SLC6A8 gene. This gene provides instructions for making a protein called the creatine transporter, which is responsible for transporting creatine into cells. Mutations in this gene can lead to a deficiency of creatine in the body, resulting in a variety of neurological and muscular symptoms.

The main treatment for Creatine Transporter Deficiency is dietary supplementation with creatine monohydrate. This is usually taken in the form of a powder or capsule and is taken daily. Other treatments may include physical therapy, speech therapy, occupational therapy, and medications to help manage seizures. In some cases, a ketogenic diet may be recommended to help manage seizures.

1. Family history of Creatine Transporter Deficiency
2. Premature birth
3. Low birth weight
4. Exposure to certain medications during pregnancy
5. Exposure to certain environmental toxins
6. Genetic mutations in the SLC6A8 gene, which is responsible for the production of the creatine transporter protein

At this time, there is no cure for Creatine Transporter Deficiency. However, there are medications that can help manage the symptoms. These medications include anticonvulsants, such as levetiracetam, and other medications that can help reduce seizures. Additionally, dietary modifications, such as a low-protein diet, may be recommended to help manage the symptoms.