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How is phenylketonuria inherited? Reveal the inheritance law of phenylketonuria


The genetic probability of phenylketonuria is influenced by many factors. It is a common amino acid metabolism disorder due to the lack of enzymes in the phenylalanine amino acid metabolic pathway, which is also the main reason for the increased genetic probability. Therefore, in the process of understanding the genetic law, the genetic law should be determined according to the patient's morbidity and genetic testing.

I believe we know more about phenylketonuria, a common childhood disease that occurs during the birth of most children. In addition to genetic factors, it is important to understand the etiology of this disease. Therefore, preliminary testing is needed to determine the understanding of genetic factors.

Phenylketonuria is an autosomal recessive disorder. On the surface, the parents are healthy people, but with the disease-causing gene, the chance of having a child is one in four. Especially if the parent has a family member with a related patient, or if the parent's first child is phenylketonuria. In the process of giving birth to a second child, further tests are required in the early stages before a healthy child can be born. Secondly, the pregnancy examination should be judged by amniocentesis or genetic examination, and screening and examination should also be carried out after birth, which is very important for the diagnosis of the disease what is pku.

Learn about the genetic probability of phenylketonuria, and judge it based on small changes in genes, not necessarily caused by genetic defects. After all, phenylketonuria is an amino acid metabolic disorder that prevents the conversion of phenylalanine to tyrosine, leading to the accumulation of phenylalanine and ketoacids. The disease is excreted in the urine and is an inherited disorder of insufficient amino acid metabolism. Secondly, heredity is mainly chromosomal recessive and also autosomal recessive. Therefore, after the child is born, screening needs to be carried out as soon as possible, and then the purpose of treatment can be achieved through early diagnosis and treatment.

Phenylketonuria is clinically manifested by mental retardation, psychiatric symptoms, eczema, skin abrasions, hyperpigmentation, and a characteristic urine odor. Couples should be aware of the possibility of consanguineous marriages. Therefore, it is recommended that couples conduct pre-marital examinations before marriage, which is of great significance for the prevention of hereditary diseases of phenylketonuria, and parents should pay attention.