About Hyperprolinemia type 2

What is Hyperprolinemia type 2?

Hyperprolinemia type 2 is a rare inherited disorder caused by a mutation in the PRODH gene. It is characterized by elevated levels of proline in the blood, which can lead to a variety of neurological and developmental problems. Symptoms may include intellectual disability, seizures, and movement disorders. Treatment typically involves dietary modifications and medications to control symptoms.

What are the symptoms of Hyperprolinemia type 2?

The symptoms of Hyperprolinemia type 2 vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Behavioral problems
-Growth retardation
-Feeding difficulties
-Hearing loss
-Vision problems
-Heart defects
-Kidney problems
-Liver problems
-Skin abnormalities

What are the causes of Hyperprolinemia type 2?

Hyperprolinemia type 2 is caused by mutations in the PRODH gene, which is responsible for the production of the enzyme proline oxidase. Mutations in this gene can lead to a decrease in the activity of the enzyme, resulting in an accumulation of proline in the body. This can lead to a variety of symptoms, including intellectual disability, seizures, and movement disorders.

What are the treatments for Hyperprolinemia type 2?

1. Dietary modifications: A low-proline diet is recommended for individuals with hyperprolinemia type 2. This includes avoiding foods that are high in proline, such as red meat, dairy products, and certain types of fish.

2. Medications: Medications such as hydroxyurea and allopurinol may be prescribed to reduce proline levels in the blood.

3. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in individuals with hyperprolinemia type 2.

4. Liver transplant: In some cases, a liver transplant may be necessary to treat hyperprolinemia type 2.

What are the risk factors for Hyperprolinemia type 2?

1. Genetic mutations in the proline oxidase gene
2. Family history of Hyperprolinemia type 2
3. Advanced age
4. Certain medications, such as valproic acid
5. Alcoholism
6. Poor nutrition
7. Liver disease
8. Kidney disease
9. Hypothyroidism
10. Certain autoimmune diseases, such as lupus

Is there a cure/medications for Hyperprolinemia type 2?

At this time, there is no known cure for Hyperprolinemia type 2. However, medications can be used to help manage the symptoms. These medications include anticonvulsants, anti-seizure medications, and anti-anxiety medications. Additionally, dietary changes may be recommended to help reduce the levels of proline in the body.