Phenylketonuria may be caused by uremia due to various reasons. When phenylketonuria occurs, it is necessary to actively find out the correct cause of phenylketonuria in order to cure it completely. The following will explain the situation of phenylketonuria, hoping to help friends suffering from phenylketonuria, so that they can actively cure phenylketonuria through effective methods and recover their health as soon as possible. Steps/Methods: 01First of all, phenylketonuria may lead to obstruction of some related amino acid metabolism, which is very detrimental to human health. In addition, the concentration of phenylalanine in some tissues increases. When these indicators appear, patients must pay attention to it. 02 If patients with phenylketonuria are ignored for a long time, it is easy to cause some physical effects on the patients. For example, the patients' intelligence may gradually decline. This is very detrimental to the patients' health. It is necessary to attach importance to the treatment of phenylketonuria. 03In the treatment of phenylketonuria, the most important principle is to detect the related symptoms of phenylketonuria early and carry out systematic treatment methods of phenylketonuria early, so as to help patients cure related diseases as soon as possible and return to normal life. Phenylketonuria is a common disease among congenital amino acid metabolism disorders, one of the causes of mental retardation, and is an autosomal recessive inheritance. They have mental retardation, yellowish-brown hair, fair skin, less pigmentation, a peculiar musty odor in urine and sweat, and the presence of phenylpyruvate in urine 4 to 6 weeks after birth. (1) Urine ferric chloride test: A green reaction is positive, indicating the presence of phenylpyruvate in the urine. (2) Urine 2, 4-dinitrophenylhydrazine test: Yellow urine or yellow precipitate is positive, indicating the presence of ketoprofen in the urine. (3) Plasma phenylpyruvate (PPA) measurement: An increase in plasma phenylpyruvate concentration to 0.36~4.88 mmol/L (mmol/L) has definite diagnostic significance (normal range is 0.061~0.18 mmol/L). (4) Phenylalanine (Phe) tolerance test: Plasma phenylalanine concentration may increase, and asymptomatic heterozygous carriers can be detected. (5) Tetrahydrobiopiroxine loading test: In typical phenylketonuria, the plasma phenylalanine concentration does not decrease. |
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