Phenylketonuria is an inherited metabolic disease, mainly due to abnormal tyrosine metabolism leading to the accumulation of phenylketonuria substances in the body. The symptoms, causes and treatments of the disease are key concerns for families preparing for pregnancy.
1. Symptoms
The symptoms of phenylketonuria are mainly manifested in infancy and early childhood and may include:
1. Drowsiness and fatigue: Children often show persistent lethargy and fatigue and have difficulty staying awake.
2. Vomiting and food refusal: Children often experience vomiting and loss of appetite symptoms, leading to weight loss.
3. Odd-smelling urine: The urine of children with phenylketonuria emits a special sweet smell, which is often noticed by parents.
4. Spasms and convulsions: In severe cases, children may have spasms and convulsions, which are serious symptoms of phenylketonuria.
2. Reasons
Phenylketonuria is caused by a deficiency or abnormal function of phenylketoncarboxylate hydroxylase, an important enzyme responsible for the metabolism of phenylketonate. Phenylketoncarboxylate hydroxylase deficiency causes phenylketonuria to accumulate in the body.
3. Treatment methods
The treatment of phenylketonuria mainly includes diet control and drug treatment:
1. Diet control: Children need special diet control to limit the intake of tyrosine to reduce the production of phenylketonuria substances. Children are usually advised to follow a low-phenylalanine diet and avoid foods containingFoods high in phenylalanine, such as meat, eggs, and dairy products.
2. Medication: Some children may need medication to assist in controlling phenylketonuria. Commonly used drugs include phenylalanine hydroxylase activator and coenzyme Q10, which can help children reduce the accumulation of phenylpyruvic acid.
In summary, the symptoms of phenylketonuria include lethargy and fatigue, vomiting and refusal to eat, smelly urine, and cramps and convulsions; the cause of phenylketonuria is It is caused by the deficiency or abnormal function of phenylketoncarboxylate hydroxylase; the treatment of phenylketonuria mainly includes diet control and drug treatment. Families should understand the relevant knowledge of phenylketonuria during the pregnancy preparation stage, and seek medical treatment and consult a professional doctor in time when related symptoms are discovered to ensure the smooth progress of the pregnancy preparation process.
