RFVT3-related riboflavin transporter deficiency is a rare genetic disorder caused by mutations in the SLC52A3 gene. This gene provides instructions for making a protein called riboflavin transporter 3 (RFVT3). This protein is responsible for transporting riboflavin (vitamin B2) into cells. People with this disorder have a deficiency of RFVT3, which leads to a deficiency of riboflavin in the body. Symptoms of this disorder can include seizures, developmental delay, and vision problems.

The symptoms of RFVT3-related riboflavin transporter deficiency can vary from person to person, but may include:

-Developmental delay
-Seizures
-Feeding difficulties
-Growth failure
-Hearing loss
-Vision problems
-Movement disorders
-Cognitive impairment
-Behavioral problems
-Skin rashes
-Liver and kidney problems
-High levels of lactic acid in the blood (lactic acidosis)
-Low levels of riboflavin in the blood (riboflavin deficiency)

RFVT3-related riboflavin transporter deficiency is caused by mutations in the SLC52A3 gene. This gene provides instructions for making a protein called riboflavin transporter 3 (RFVT3). This protein is responsible for transporting riboflavin (vitamin B2) into cells. Mutations in the SLC52A3 gene reduce or eliminate the function of RFVT3, leading to a deficiency of riboflavin in the body.

1. Dietary supplementation with riboflavin: Riboflavin is the main treatment for RFVT3-related riboflavin transporter deficiency. Riboflavin is available in many foods, including dairy products, eggs, green vegetables, and fortified cereals. It is also available as a dietary supplement.

2. Vitamin B complex supplementation: Vitamin B complex supplements may be recommended to help compensate for the lack of riboflavin absorption.

3. Antioxidant therapy: Antioxidants, such as vitamin E and selenium, may be recommended to help protect cells from damage caused by free radicals.

4. Lifestyle modifications: Eating a balanced diet, avoiding alcohol, and getting regular exercise may help improve symptoms of RFVT3-related riboflavin transporter deficiency.

1. Genetic mutations in the SLC52A3 gene, which encodes the RFVT3 riboflavin transporter.

2. Family history of RFVT3-related riboflavin transporter deficiency.

3. Exposure to certain environmental toxins, such as lead or mercury.

4. Certain medications, such as anticonvulsants or antibiotics.

5. Malnutrition or poor dietary intake of riboflavin.

6. Certain medical conditions, such as celiac disease or Crohn’s disease.

At this time, there is no known cure or medication for RFVT3-related riboflavin transporter deficiency. However, treatment focuses on managing the symptoms and preventing complications. This may include dietary modifications, vitamin supplements, and medications to reduce seizures or other symptoms.