Riboflavin transporter deficiency (RTD) is a rare genetic disorder caused by a mutation in the SLC52A2 gene. This gene is responsible for the production of a protein that helps transport riboflavin (vitamin B2) into cells. People with RTD have difficulty absorbing riboflavin, leading to a deficiency of this essential vitamin. Symptoms of RTD include seizures, developmental delays, vision problems, and hearing loss. Treatment typically involves taking riboflavin supplements and avoiding foods that are high in riboflavin.

The symptoms of Riboflavin Transporter Deficiency (RTD) vary depending on the severity of the condition. Common symptoms include:

- Poor growth

- Seizures

- Developmental delay

- Intellectual disability

- Vision problems

- Hearing loss

- Skin rashes

- Abnormal movements

- Abnormal muscle tone

- Abnormal reflexes

- Abnormal heart rate

- Abnormal blood pressure

- Abnormal blood sugar levels

- Abnormal liver function tests

- Abnormal kidney function tests

- Abnormal electrolyte levels

- Abnormal levels of certain vitamins and minerals in the blood

Riboflavin transporter deficiency is a rare genetic disorder caused by mutations in the SLC52A2 gene. This gene provides instructions for making a protein that transports riboflavin (vitamin B2) into cells. Mutations in this gene reduce or eliminate the ability of the protein to transport riboflavin, leading to a deficiency of this vitamin in the body.

The main treatment for Riboflavin Transporter Deficiency is a high-dose oral riboflavin supplement. This supplement should be taken daily and monitored by a doctor to ensure that the correct dosage is being taken. Other treatments may include dietary modifications, such as avoiding foods high in riboflavin, and taking other vitamins and minerals to help support the body's metabolism. In some cases, medications may be prescribed to help manage symptoms.

1. Premature birth
2. Low birth weight
3. Genetic mutations in the SLC52A2 gene
4. Exposure to certain medications, such as anticonvulsants
5. Malnutrition
6. Gastrointestinal disorders, such as celiac disease or Crohn’s disease
7. Liver disease
8. Kidney disease
9. Certain metabolic disorders, such as galactosemia or tyrosinemia

At this time, there is no known cure for Riboflavin Transporter Deficiency. However, there are medications available to help manage the symptoms. These medications include riboflavin supplements, anticonvulsants, and other medications to help control seizures. Additionally, dietary modifications may be recommended to help manage the symptoms.