Phenylketonuria is an inherited metabolic disease caused by autosomal recessive inheritance. If parents carry this gene, children are more likely to get sick than the average person. Especially people who are consanguineous, children are more likely to develop phenylketonuria. Since patients need to know whether phenylketonuria is a hereditary disease, it is necessary to have a detailed understanding of the disease.
Phenylketonuria is a common amino acid metabolism disease. Due to the lack of enzymes in the metabolism of phenylalanine amino acids, phenylalanine amino acids cannot be converted, which will lead to diseases. It is very important to understand why a patient is in the course of treatment. Therefore, can autosomal testing determine that phenylketonuria is a genetic disorder?
Phenylketonuria is a genetic disorder caused by a deficiency or reduced activity of phenylalanine hydroxylase in the liver, resulting in abnormal phenylalanine metabolism. The disease is indeed genetically related. It is very common in inherited amino acid metabolism defects. The disorder is usually an autosomal recessive or reduced pAH enzyme activity caused by mutations in the pAH gene. It is clinically believed that the possibility of phenylketonuria is greatly increased. Therefore, we should pay more attention to this condition before pregnancy. After all, in addition to phenylketonuria, we should also pay attention to abnormal gene metabolism what is pku.
Phenylketonuria is a common amino acid metabolism disorder. Due to defects in enzymes in the phenylalanine metabolic pathway, phenylalanine cannot be converted to tyrosine, resulting in the accumulation and excretion of phenylalanine and ketoacids in the urine. The genetic methods are mainly chromosomal recessive inheritance and autosomal recessive inheritance, and the clinical manifestations are different, such as mental retardation, mental symptoms, eczema, skin scratches, pigmentation and special urine odor. After the birth of the disease, it is necessary to screen as soon as possible, choose a special diet, and early diagnosis and early treatment can ensure the recovery of normal intelligence and abnormal EEG.
The genetic factors of phenylketonuria are well understood. In fact, there are many reasons to be aware of it besides genetic factors. Here I remind you that both children and adults with phenylketonuria should be treated as soon as possible to improve the harm of the disease in time, especially after the occurrence of phenylketonuria, patients will have mental phenomena such as excitement and loneliness, so mentality adjustment is also a very important important process.