pku handbook

Phenylketonuria is a congenital disease mainly caused pku handbook by a problem in the body's amino acid metabolism. The reason why it is called phenylketonuria is that the main content of the disease is that the enzymes in the phenylalanine metabolic pathway in these patients are defective, which will directly lead to the inability of phenylalanine to change into tyrosine normally, thus A mental illness caused by the accumulation of tyrosine in the human body. Phenylketonuria may affect the intelligence of some patients and also appear. For some social problems, it is necessary for us to understand and analyze our own systemic disease.

Phenylketonuria can be screened during pregnancy, and it is now listed as one of the mandatory prenatal tests for girl pregnancies. Phenylalanine is one of the essential amino acids for the human body, and everyone needs to consume at least 500 mg of phenylalanine per day. Because phenylalanine can synthesize protein in the human body, it can also be used as a raw material for thyroxine and epinephrine. Many people with phenylketonuria experience growth retardation if left untreated.

This growth retardation, in addition to the relatively slow physical development, is also reflected in the retardation of intellectual development. In general, people with phenylketonuria have lower IQs than normal babies and can show significant differences from normal babies at 4 to 9 months of age. If a patient with phenylketonuria is severely ill, he or she may even have difficulties with language development, which may indicate a problem with the child's brain development.

Patients with phenylketonuria also have problems in the management of the central nervous network system and some psychological developmental disorders. The main reason is that because these patients can experience brain dysfunction in students because of brain atrophy, generally we will show it through repeated seizures. However, the twitching will ease as the child gets older. In addition, the muscle tone of many different patients is also increased, the reflexes of various parts are very hyperactive, and abnormal behaviors such as hyperactivity or agitation need to be used frequently. The mental illness also manifests itself on the skin and hair of the sufferer. Most phenylketonuria patients have very dry skin and are prone to eczema, and they can easily understand scratches if they scratch the skin lightly. The tyrosinase of patients with phenylketonuria will be inhibited to a certain extent, which may directly lead to the technical obstacles of melanin synthesis in the human body, thus making the hair of many patients light brown.