About Essential Fructosuria

Fructosuria, Essential, also known as essential fructosuria, is related to fructose intolerance, hereditary and hypoglycemia. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase), and among its related pathways/superpathways are Metabolism and Disease. Affiliated tissues include liver, and related phenotypes are impairment of fructose metabolism and abnormal urine carbohydrate level

Major Symptoms of Essential Fructosuria

Essential fructosuria (essential fructosuria syndrome) is a rare genetic disease. The main symptoms include:

1. Abnormal facial expressions and body movements: patients may have facial expressions such as smiling, nodding, shaking their heads, tongue sticking out, blinking, etc. , as well as kicking and jumping. , waving and other body movements.

2. Shortness of breath: Patients may feel short of breath or even need to take rapid breaths to breathe.

3. Paroxysmal worsening of pain: Patients may suddenly feel severe pain in a certain part of the body, accompanied by paroxysmal worsening of pain.

4. Mental status changes: Patients may experience changes in mental status such as emotional instability, anxiety, and depression.

5. Digestive system problems: Patients may suffer from diarrhea, constipation, nausea, vomiting and other digestive system problems.

6. Skin problems: Patients may experience symptoms such as skin cyanosis, edema, itching, and ulceration.

7. Others: Patients may also experience other symptoms, such as palpitations, irregular heartbeat, vision problems, etc. It is important to note that these symptoms may not occur in all patients, and the manifestations of symptoms may vary among individual patients. If you have these symptoms, it is recommended to seek medical treatment promptly and receive diagnosis and treatment from a professional doctor.

Suitable Lifestyle for People with Essential Fructosuria

Essential fructosuria is a rare genetic disease characterized by severe diarrhea and vomiting. Since there is currently no specific drug for this disease, lifestyle choices are particularly important for patients. Here are some suggestions to help people with Essential fructosuria optimize their lifestyle:

1. Eat a balanced diet: Patients need to consume enough nutrients to maintain good health. A balanced diet including protein, fat, carbohydrates, vitamins and minerals is recommended. Minimize the intake of foods high in fiber, sugar and salt.

2. Pay attention to food hygiene: Maintaining good food hygiene habits can reduce the risk of contracting pathogens. Wash your hands frequently, avoid sharing cutlery and cups with others, and use disposable napkins, etc.

3. Control the amount of food you eat: Excessive eating will increase the burden on the gastrointestinal tract and worsen symptoms. Patients should arrange their diet reasonably according to their needs and physical condition and avoid overeating.

4. Stay in a good mood: Essential fructosuria may cause patients to feel depressed, anxious, and self-doubt. A positive attitude and emotional regulation can help patients cope better with the disease.

5. Moderate exercise: Appropriate exercise can improve the body's immunity and relieve symptoms. Patients should choose appropriate exercise methods according to their physical condition, such as walking, yoga or jogging.

6. Get enough sleep: Adequate sleep is crucial to a patient's recovery. Patients should follow a regular schedule and ensure adequate sleep time every day.

7. Avoid infection: Maintain good personal hygiene habits and avoid sharing daily necessities with others to reduce the risk of contracting pathogens.

8. Regular medical visits: Essential fructosuria is a complex disease. Regular medical visits can help patients monitor their condition and adjust treatment plans in a timely manner. Patients should receive regular examination and treatment from a doctor. In summary, people with Essential fructosuria should pay attention to their health and strive to improve their lifestyle to maintain physical and mental health.

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