Biotin-thiamine-responsive basal ganglia disease is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the SLC19A3 gene, which is responsible for the production of a protein called biotinidase. This protein is essential for the metabolism of biotin, a vitamin that is important for normal brain development. Symptoms of this disorder include seizures, developmental delay, movement disorders, and intellectual disability. Treatment typically involves a combination of biotin and thiamine supplementation, as well as other medications and therapies.

The symptoms of Biotin-thiamine-responsive basal ganglia disease vary from person to person, but may include:

• Developmental delay

• Seizures

• Movement disorders, such as dystonia, chorea, or ataxia

• Abnormal eye movements

• Speech and language delays

• Behavioral problems

• Intellectual disability

• Poor coordination

• Muscle weakness

• Poor balance

• Abnormal gait

• Difficulty swallowing

• Abnormal EEG findings

• Abnormal MRI findings

Biotin-thiamine-responsive basal ganglia disease is caused by mutations in the SLC19A3 gene, which is responsible for the production of a protein called thiamine transporter 2 (THTR-2). This protein is responsible for transporting thiamine (vitamin B1) into cells. When the SLC19A3 gene is mutated, the THTR-2 protein is not produced, leading to a deficiency of thiamine in the cells of the basal ganglia, a region of the brain involved in movement and coordination. This deficiency can lead to a variety of neurological symptoms, including seizures, developmental delays, and movement disorders.

1. Vitamin supplementation: Biotin and thiamine supplementation are the mainstay of treatment for biotin-thiamine-responsive basal ganglia disease. Biotin supplementation is typically given at a dose of 10-20 mg/day, while thiamine supplementation is typically given at a dose of 100-200 mg/day.

2. Dietary modifications: Dietary modifications may be necessary to ensure adequate intake of biotin and thiamine. This may include increasing intake of foods rich in these vitamins, such as eggs, nuts, legumes, and whole grains.

3. Medications: Medications may be necessary to control symptoms of biotin-thiamine-responsive basal ganglia disease. These may include anticonvulsants, antipsychotics, and/or dopamine agonists.

4. Physical therapy

1. Genetic mutations in the SLC19A3 gene, which is responsible for transporting biotin into cells.
2. Mutations in the SLC19A2 gene, which is responsible for transporting thiamine into cells.
3. Mutations in the SLC6A8 gene, which is responsible for transporting biotin and thiamine into cells.
4. Deficiency of biotin and/or thiamine in the diet.
5. Exposure to certain medications, such as anticonvulsants, that can interfere with biotin and thiamine absorption.
6. Certain medical conditions, such as Crohn’s disease, that can interfere with biotin and thiamine absorption.
7. Family history of Biotin-thiamine-responsive basal ganglia disease.

At this time, there is no known cure for Biotin-thiamine-responsive basal ganglia disease. However, there are medications that can help manage the symptoms of the disease. These medications include biotin, thiamine, and other vitamins and minerals. Additionally, medications such as anticonvulsants, antipsychotics, and dopamine agonists may be prescribed to help manage the symptoms of the disease.