About Hereditary Orotic Aciduria

What is Hereditary Orotic Aciduria?

Hereditary orotic aciduria is an inherited disorder that affects the body's ability to break down certain proteins. It is caused by a deficiency of the enzyme orotic aciduria, which is responsible for breaking down the amino acid orotic acid. Symptoms of the disorder include poor growth, intellectual disability, and an increased risk of infections. Treatment typically involves dietary changes and supplementation with vitamins and minerals.

What are the symptoms of Hereditary Orotic Aciduria?

The symptoms of Hereditary Orotic Aciduria can vary from person to person, but may include:

- Poor growth

- Developmental delay

- Intellectual disability

- Seizures

- Vomiting

- Abdominal pain

- Weakness

- Poor muscle tone

- Poor coordination

- Feeding difficulties

- Poor appetite

- Elevated levels of orotic acid in the urine

- Elevated levels of ammonia in the blood

What are the causes of Hereditary Orotic Aciduria?

Hereditary orotic aciduria is caused by a genetic mutation in the UMP synthase gene, which is responsible for the production of orotic acid. This mutation can be inherited from either parent, and is usually passed down in an autosomal recessive pattern.

What are the treatments for Hereditary Orotic Aciduria?

The primary treatment for Hereditary Orotic Aciduria is dietary management. This includes avoiding foods that are high in orotic acid, such as dairy products, eggs, and certain vegetables. Additionally, a low-protein diet may be recommended to reduce the amount of orotic acid produced in the body. Supplementation with vitamins and minerals, such as folic acid, vitamin B12, and zinc, may also be recommended to help reduce the symptoms of the condition. In some cases, medications may be prescribed to help reduce the levels of orotic acid in the body.

What are the risk factors for Hereditary Orotic Aciduria?

1. Family history of the disorder
2. Genetic mutations in the UMP synthase gene
3. Exposure to certain environmental toxins
4. Low levels of certain vitamins and minerals in the diet
5. Certain medications, such as anticonvulsants and antibiotics

Is there a cure/medications for Hereditary Orotic Aciduria?

There is no cure for Hereditary Orotic Aciduria, but medications can be used to help manage the symptoms. These medications include vitamin B12, folic acid, and uridine. Additionally, dietary changes may be recommended to help reduce the amount of orotic acid in the body.