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About Dihydropteridine reductase deficiency

What is Dihydropteridine reductase deficiency?

Dihydropteridine reductase deficiency (DHPRD) is a rare genetic disorder caused by a deficiency of the enzyme dihydropteridine reductase (DHPR). This enzyme is responsible for the conversion of the essential vitamin folate into its active form, tetrahydrofolate. Without this enzyme, folate cannot be used by the body, leading to a deficiency of folate and other essential vitamins and minerals. Symptoms of DHPRD include developmental delays, seizures, vision and hearing loss, and intellectual disability. Treatment typically involves supplementation with folate and other vitamins and minerals.

What are the symptoms of Dihydropteridine reductase deficiency?

The symptoms of dihydropteridine reductase deficiency can vary from person to person, but may include:

• Developmental delay

• Seizures

• Intellectual disability

• Abnormal movements

• Abnormal eye movements

• Abnormal facial features

• Abnormalities of the hands and feet

• Abnormalities of the heart and blood vessels

• Abnormalities of the gastrointestinal tract

• Abnormalities of the skin

• Abnormalities of the immune system

• Abnormalities of the endocrine system

• Abnormalities of the nervous system

• Abnormalities of the musculoskeletal system

• Abnormalities of the urinary system

• Abnormalities of the reproductive system

• Abnormalities of

What are the causes of Dihydropteridine reductase deficiency?

Dihydropteridine reductase deficiency is caused by mutations in the QDPR gene, which provides instructions for making an enzyme called dihydropteridine reductase. This enzyme is involved in the metabolism of certain vitamins, including folic acid and vitamin B12. Mutations in the QDPR gene reduce or eliminate the activity of the enzyme, leading to a buildup of certain substances in the body and the signs and symptoms of dihydropteridine reductase deficiency.

What are the treatments for Dihydropteridine reductase deficiency?

1. Dietary supplementation with folinic acid and/or tetrahydrobiopterin (BH4)
2. Enzyme replacement therapy (ERT)
3. Gene therapy
4. Bone marrow transplantation
5. Hematopoietic stem cell transplantation
6. Antioxidant therapy
7. Vitamin B6 supplementation
8. Pyridoxine-responsive seizures treatment
9. Pyridoxal-5-phosphate supplementation
10. Pyridoxamine supplementation

What are the risk factors for Dihydropteridine reductase deficiency?

1. Genetic mutation: Dihydropteridine reductase deficiency is caused by a genetic mutation in the QDPR gene.

2. Family history: Individuals with a family history of Dihydropteridine reductase deficiency are at an increased risk of developing the condition.

3. Ethnicity: Individuals of Ashkenazi Jewish descent are more likely to have the genetic mutation that causes Dihydropteridine reductase deficiency.

4. Age: Dihydropteridine reductase deficiency is more common in infants and young children.

Is there a cure/medications for Dihydropteridine reductase deficiency?

Yes, there is a medication called sapropterin dihydrochloride (Kuvan) that is used to treat dihydropteridine reductase deficiency. This medication helps to reduce the levels of phenylalanine in the blood, which can help to reduce the symptoms of the condition. Additionally, dietary modifications may be recommended to help manage the condition.