Can phenylketonuria be prevented?

Written by Yan Xin Liang
Pediatrics
Updated on March 10, 2025
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Phenylketonuria belongs to a recessive hereditary metabolic disease; how can we take preventive measures? First, we must avoid consanguineous marriages. Second, we need to conduct newborn screening to achieve early diagnosis, early detection, and early treatment. Third, for pregnant women with a family history of this disease, it is mandatory to use DNA analysis or methods like amniotic fluid testing for prenatal diagnosis of their fetuses. Prevention is better than cure. By taking preventive measures early, the chances of complications occurring are greatly reduced. If a baby shows symptoms of newborn phenylketonuria, parents should not take it lightly and should actively cooperate with the treatment.

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Written by Zeng Hai Jiang
Pediatrics
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Phenylketonuria treatment duration before discontinuation

Phenylketonuria is the first genetic metabolic disease that can be treated through dietary control. Once diagnosed with phenylketonuria, active treatment must be given, ceasing a natural diet and implementing a low-phenylalanine diet. Generally, a low-phenylalanine milk formula should be administered at least until the age of three. When the concentration of phenylalanine in the blood is adjusted to an ideal range, a small amount of natural diet can gradually be reintroduced. The reintroduced diet should still adhere to low-protein and low-phenylalanine standards.

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Written by Zeng Hai Jiang
Pediatrics
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Does phenylketonuria require a lifetime of special milk consumption?

Phenylketonuria does not require a lifetime of special milk consumption. It is the first genetically inherited metabolic disorder that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and begin treatment with a low-phenylalanine diet. The low-phenylalanine milk formula should be consumed at least until the age of 12. When the concentration of phenylalanine in the blood is controlled within the ideal range, it is possible to appropriately add a small amount of natural diet, adhering to principles of low protein and low phenylalanine.

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Written by Wang Lin Zhong
Pediatrics
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Early symptoms of phenylketonuria

Phenylketonuria is a hereditary metabolic disease caused by a deficiency or low activity of phenylalanine hydroxylase. Its main clinical manifestations include very obvious developmental delays in children and significantly lower IQ than their peers, severely affecting the child's growth and development. Due to the lack of this enzyme, the increase of abnormal metabolic products affects brain function, leading to symptoms such as seizures, convulsions, increased muscle tone, as well as hyperactivity and restlessness in children. The skin becomes particularly dry, prone to eczema, appears pale, and the hair turns yellow. The urine has a distinct mouse-like odor. Once diagnosed, early treatment is essential to reduce the sequelae of brain damage. The earlier the treatment, the better the prognosis. For these children, a special formula is needed, which is low in phenylalanine.

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Written by Hu Qi Feng
Pediatrics
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Phenylketonuria inheritance mode

Phenylketonuria is an autosomal recessive genetic disorder, caused by a mutation in the phenylalanine hydroxylase gene leading to reduced enzyme activity. This results in the accumulation of phenylalanine and its metabolic products in the body, causing the disease. It is the most common congenital amino acid metabolism disorder and is clinically characterized by delayed intellectual development, changes in skin and hair pigmentation, and a mousy urine odor. The incidence of this disease in China is approximately 1 in 11,000, and it is inherited in an autosomal recessive manner.

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Written by Yan Xin Liang
Pediatrics
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How is phenylketonuria diagnosed?

How is phenylketonuria diagnosed? Firstly, we start with screening, which is usually done when the newborn is 3 to 7 days old by heel prick to collect peripheral blood, which is then dropped onto specialized filter paper for the determination of phenylalanine concentration. If the concentration of phenylalanine is above the cutoff value, further determination of phenylalanine concentration is conducted. The normal concentration is less than 120 umol/L. If the concentration of phenylalanine is greater than 1200 umol/L, it suggests severe phenylketonuria. Moderate levels are above 360 umol/L, and mild levels are above 120 umol/L but less than 360 umol/L. Furthermore, diagnosis can be confirmed through DNA analysis, currently available tests include screening for mutations in the phenylalanine hydroxylase gene.