Newborns with phenylketonuria are born pku handbook with normal behavior, and some may have nonspecific symptoms such as feeding difficulties, vomiting, and restlessness. Untreated children gradually show intellectual, motor, developmental, black-to-yellow hair, and fair skin after 3-4 months, and generally have the following symptoms:

1. In the early stage of the nervous system, neurobehavioral abnormalities, such as excitement, hyperactivity, lethargy, depression, a small amount of increased muscle tone, excessive tendon reflexes, and convulsions (about 25%), may appear, and the mental development is increasingly obvious, and 80% have electroencephalograms abnormal. Neurological symptoms of BH4 deficiency appear early and are more severe, commonly hypotonia, lethargy, convulsions, and often death in early childhood if untreated.

2. Appearance Due to the lack of melanocyte synthesis ability, the hair, skin and iris have a lighter color in the months after birth. The skin is dry, and some phenylketonuria is often accompanied by eczema.

3. Other phenylacetic acid is excreted in urine and sweat, showing a characteristic odor of rat urine.

Neonatal phenylketonuria screening has gradually become routine newborn screening, that is, screening every newborn in the population for phenylalanine before clinical symptoms appear, making it a child with PKU. When biochemical changes are obvious, early diagnosis and early treatment can avoid the occurrence of mental retardation.

Principles and methods of treatment of neonatal phenylketonuria

1. Principles of treatment of neonatal phenylketonuria

PKU is the first inherited metabolic disease treatable through dietary management control. All natural foods contain a certain amount of phenylalanine and a low-protein diet will lead to poor nutritional status of students. Therefore, we can treat it with a low-phenylalanine diet. The principles of the treatment method are as follows:

(1) Early treatment: Once diagnosed, treatment should be started immediately. The younger the treatment age, the better the prognosis.

(2) L-phenylalanine intake: L-phenylalanine is an essential amino acid necessary for growth and metabolism. Intellectual impairment in phenylalaninuria patients is caused by the neurotoxic effects of excess phenylalanine and bypass metabolites in the body. In order to prevent brain damage, the only way to reduce the intake of l-phenylalanine in the diet is to reduce the intake of phenylalanine and parametabolites in the diet, and the concentration of phenylalanine in the blood should be controlled at 120-360 μmol /l.

(3) Investigate individual diets: Since each child has a different tolerance to phenylalanine, the diet should still be adjusted according to the child's specific situation, and treatment with low-phenylalanine formula should last at least until the age of 12.

(4) For women before pregnancy: For adult female patients, the dietary management control system should be redesigned before pregnancy until delivery, so as to avoid hyperphenylalaninemia affecting the fetus.

(5) Prenatal diagnosis of high-risk families.

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