About Hyperphenylalaninemia

Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to classic phenylketonuria and hyperphenylalaninemia, and has symptoms including back pain, headache and pain. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dopamine and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include Liver, heart and brain, and related phenotypes are aminoaciduria and intellectual disability

Major Symptoms of Hyperphenylalaninemia

The main symptoms of vertical phenylalaninemia (hereditary phenylalanine metabolism disorder) include:

1. Phenylalanine accumulation: The phenylalanine level in the patient's body will gradually increase, leading to the accumulation of phenylalanine in the body and possible effects on Damage occurs to organs such as the nervous system, skin, and eyes.

2. Psychiatric symptoms: Patients may have psychiatric symptoms such as inattention, hyperactivity, anxiety, depression, and mania.

3. Skin symptoms: Patients may experience symptoms such as spots, rashes, and dry skin on their skin.

4. Eye symptoms: Patients may experience symptoms such as dry eyes, pain, and decreased vision.

5. Nervous system symptoms: Patients may experience symptoms such as headache, dizziness and insomnia.

6. Digestive symptoms: Patients may experience symptoms such as nausea, vomiting and diarrhea.

7. Low immune function: Patients may have low immune function and are susceptible to bacterial and viral infections.

8. Growth and development disorders: Patients may have growth and development disorders, resulting in lower height and weight than their peers. It should be noted that these symptoms are not always present and do not completely represent vertical phenylalaninemia. If you have these symptoms, it is recommended to seek medical attention promptly for diagnosis and treatment.

Suitable Lifestyle for People with Hyperphenylalaninemia

Suitable lifestyle options for people with Hyperphenylalaninemia include:

1. Avoid foods or drinks that may contain phenylalanine, such as beans, nuts, milk, eggs, peanuts, etc.

2. Maintain a balanced nutrition and eat more fresh vegetables, fruits, whole grains and protein-rich foods such as chicken, fish, beans, milk, fish and eggs.

3. Eat a light diet and reduce the intake of greasy and irritating foods.

4. Pay attention to food hygiene, avoid food contamination, and reduce the risk of infection.

5. Maintain good work and rest habits, ensure adequate sleep, and avoid overwork and fatigue.

6. Avoid bad habits such as smoking and drinking, and maintain a healthy lifestyle.

7. Have regular physical examinations to ensure good health.

Other Diseases

Hereditary Hyperphenylalaninemia

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