About Essential fructosuria

What is Essential fructosuria?

Essential fructosuria is an inherited disorder in which the body is unable to break down the sugar fructose. People with this disorder have high levels of fructose in their urine, which can lead to symptoms such as abdominal pain, nausea, and diarrhea. Treatment typically involves avoiding foods that contain fructose, such as fruits, honey, and some processed foods.

What are the symptoms of Essential fructosuria?

The symptoms of Essential Fructosuria are usually mild and may include:

- Sweet-smelling urine
- Elevated levels of fructose in the urine
- Elevated levels of glucose in the urine
- Abdominal discomfort
- Diarrhea
- Weight loss
- Fatigue
- Nausea
- Vomiting

What are the causes of Essential fructosuria?

Essential fructosuria is caused by a genetic mutation in the enzyme fructose-1-phosphate aldolase, which is responsible for breaking down fructose. This mutation causes the enzyme to be less active, resulting in an accumulation of fructose in the blood.

What are the treatments for Essential fructosuria?

The main treatment for essential fructosuria is dietary management. This involves avoiding foods that contain fructose, sucrose, and other sugars that are metabolized by the enzyme aldolase B. This includes avoiding foods such as honey, apples, pears, and other fruits, as well as processed foods that contain added sugars. It is also important to read food labels carefully to identify hidden sources of fructose. In some cases, a doctor may recommend a low-fructose diet. In addition, a doctor may recommend taking a supplement of the enzyme aldolase B to help break down fructose and other sugars.

What are the risk factors for Essential fructosuria?

1. Genetic predisposition: Essential fructosuria is an inherited disorder caused by a genetic mutation in the liver enzyme aldolase B.

2. Age: Essential fructosuria is more common in children and adolescents than in adults.

3. Diet: Eating foods high in fructose, such as fruit juices, honey, and processed foods, can increase the risk of developing essential fructosuria.

4. Stress: Stress can increase the risk of developing essential fructosuria.

Is there a cure/medications for Essential fructosuria?

Essential fructosuria is a rare inherited disorder that does not require treatment. However, individuals with this disorder should follow a diet that is low in fructose and sucrose to reduce symptoms. Medications are not available to treat essential fructosuria.