How to check for phenylketonuria? Check items for phenylketonuria

Mar 30 - 2022


Phenylketonuria, known as pKU, is an inherited metabolic disorder. Once the human body is sick, there will be mental retardation, mental confusion, skin eczema and other adverse symptoms. Since this disease has a great impact on the human body, we should go to the hospital for examination in time, so as not to get sick without knowing it.

Phenylketonuria is an amino acid metabolic disease that can seriously affect the physical and mental health of patients, resulting in slow mental development and jeopardizing symptoms of normal life and work. Therefore, we must pay attention to this. Once we find that we or our family members have abnormal conditions, we should go to the hospital for relevant examinations in time. Next, let's look at the test items for phenylketonuria?

How to check for phenylketonuria?

There are different screening methods for different age groups. If the newborn is the object of examination, phenylketonuria screening can be done to check whether the newborn is sick. But if you are an adult, you need to do lab tests. In addition, this typical symptom can also be used to determine whether someone is sick.

2. Phenylketonuria examination items.

1. Determination of blood phenylalanine: Since the increase of phenylalanine concentration in blood is the increase of phenylalanine concentration in blood, the detection of phenylalanine concentration in blood is the preferred method for the diagnosis of pKU . If the test results show that the level of phenylalanine in the blood exceeds 120mmol/L, it means that you are sick.

2. EEG: If a patient finds a high-amplitude abstinence disorder after completing the EEG, it means that he may be sick. Because there are many diseases that can cause a patient's EEG, we need to do further tests in order to further diagnose the disease what is pku.

3. MRI of the head: If the test object is a newborn, you need to pay more attention, because the radiation of this test is large and it is easy to damage the brain of the newborn, so it is recommended to take the newborn to consider carefully. But it does not matter if it is an adult, the patient can also judge the severity of his condition and the degree of brain damage based on the results of this examination. But don't panic when this happens. As long as you can actively cooperate with the doctor's treatment, the condition will improve.

That said, we suspect we'll need to go to the hospital a few times after we're sick. However, due to the large radiation of MRI, it is not recommended for infants and pregnant women to perform this examination to avoid unnecessary damage. And, we don't have to worry too much after we've diagnosed the disease. As long as the patient can actively cooperate with the treatment, the condition can be gradually improved without adverse complications.