Hyperprolinemia Type II is a rare inherited disorder caused by a deficiency of the enzyme proline oxidase. This enzyme is responsible for breaking down the amino acid proline, which is found in proteins. People with this disorder have an accumulation of proline in their blood and tissues, which can lead to a variety of health problems. Symptoms may include intellectual disability, seizures, movement disorders, and behavioral problems. Treatment typically involves dietary changes and medications to reduce proline levels.

The symptoms of Hyperprolinemia Type II include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Growth retardation
-Facial dysmorphism
-Hearing loss
-Feeding difficulties
-Hypotonia
-Cardiac abnormalities
-Renal abnormalities
-Liver dysfunction
-Skin abnormalities
-Behavioral problems

Hyperprolinemia Type II is caused by a genetic mutation in the proline oxidase gene. This mutation results in a deficiency of the enzyme proline oxidase, which is responsible for breaking down the amino acid proline. As a result, proline accumulates in the body, leading to the symptoms of Hyperprolinemia Type II.

1. Dietary modifications: A low-proline diet is recommended for individuals with Hyperprolinemia Type II. 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 hydroxyproline and proline-lowering agents 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 II.

4. Liver transplant: In some cases, a liver transplant may be necessary to treat Hyperprolinemia Type II.

1. Genetic mutations in the proline oxidase gene
2. Family history of Hyperprolinemia Type II
3. Exposure to certain environmental toxins
4. Certain medications, such as valproic acid
5. Alcohol consumption
6. Poor nutrition
7. Advanced age
8. Chronic kidney disease

There is no cure for Hyperprolinemia Type II, but medications can be used to help manage the symptoms. These medications include anticonvulsants, anti-seizure medications, and medications to help control blood sugar levels. Additionally, dietary changes and lifestyle modifications may be recommended to help manage the condition.