About Phenylketonuria

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 Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder that primarily affects children. It is characterized by the accumulation of phenylketonuria (Phe) in the body, leading to various health problems. Some of the major symptoms of PKU include:

1. Low Intelligence: PKU patients often have low IQ and have trouble with language and communication skills.

2. feeding difficulties: Feeding difficulties are a common symptom in PKU patients, as they have a hard time processing food and may experience vomiting and diarrhea after eating.

3. skin rashes: Skin rashes and itching are common in PKU patients due to the high levels of Phe in the body.

4. eyes problems: PKU can cause problems with the eyes, including clouding and swelling.

5. hearing problems: Some PKU patients may have hearing problems due to the buildup of Phe in the inner ear.

6. recurrent infections: PKU patients are often prone to recurrent infections, such as urinary tract infections (UTIs) and pneumonia.

7. growth delays: PKU patients may experience growth delays and a low body weight.

8. altered mental status: Some PKU patients may have altered mental status, including a decreased level of consciousness and a lack of willpower.

9. PKU is a recessive genetic disorder: PKU is a recessive genetic disorder that means that a person must inherit the gene from both parents in order to develop the condition.

Suitable Lifestyle for People with Phenylketonuria

Suitable lifestyle options for people with Phenylketonuria include the following:

1. Balanced diet: avoid consuming too much phenylalanine and choose low-phenylalanine foods, such as beans, meat, fish, Nuts and fruits.

2. Appropriate exercise: Appropriate exercise can help improve the body's metabolism, enhance the body's immunity, and reduce disease symptoms.

3. Develop a regular schedule: Maintain adequate sleep and avoid staying up late and overexertion, which is conducive to recovery from illness.

4. Avoid pollutants: Avoid exposure to phenylalanine pollutants, such as PM2. 5, X-rays, etc.

5. Medication: According to the doctor's advice, take the medicine regularly according to the doctor's dosage and time.

6. Maintain a good attitude: Maintain good communication with family and friends to avoid negative emotions such as anxiety and depression, which is conducive to recovery from the disease.

Other Diseases

Phenylketonuria II Phenylketonuria in Children

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