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 Yan Xin Liang
Pediatrics
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What can be eaten with phenylketonuria?

Phenylketonuria is primarily due to a deficiency of phenylalanine hydroxylase in the body, which prevents the conversion of phenylalanine to tyrosine. Due to the blockage of the metabolic pathway, secondary metabolic pathways are enhanced, leading to the deamination of phenylalanine and the production of large amounts of phenylpyruvic acid. Through oxidation, by-products such as phenylacetic acid, phenyllactic acid, and para-hydroxyphenylpyruvic acid are formed. The treatment mainly involves the use of low-phenylalanine formula milk. When the concentration in the blood reaches the desired level, natural foods can be gradually added in small amounts. Breast milk is the preferred choice as it contains only one-third of the phenylalanine content of cow's milk. For older infants and children, cow's milk, porridge, noodles, and eggs can be added. The principle for introducing foods should be based on low protein and low phenylalanine content, adjusted according to the phenylalanine concentration in the blood. Both too high and too low levels of phenylalanine can affect growth and development.

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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria Test Methods

The examination methods for phenylketonuria primarily include newborn screenings usually performed three to seven days after birth by drawing a blood sample from the heel and placing drops on specialized blood collection filter paper. Once dried, the sample is sent to a screening laboratory to determine the concentration of phenylalanine. If the phenylalanine concentration exceeds the cutoff value, further examinations and confirmatory tests are necessary, with the confirmatory test involving the measurement of phenylalanine concentration. Another method involves the analysis of urinary pterin profile, mainly used to differentiate dihydrobiopterin reductase deficiency. Additionally, gene analysis can be applied to detect mutations in genes such as phenylalanine hydroxylase, aiding in genetic diagnoses and prenatal diagnoses.

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Written by Tong Peng
Pediatrics
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Does phenylketonuria easily cause a cold?

Phenylketonuria does not easily cause a cold, as a cold is a type of infectious disease mainly caused by various pathogen infections and stimuli, leading to symptoms such as cough, fever, and runny nose. Phenylketonuria is a common amino acid metabolism disorder caused by a deficiency of the enzyme required for phenylalanine to convert into tyrosine, resulting in excessive excretion of phenylalanine in urine. This disease is a recessive hereditary disorder, which can lead to intellectual disability, neuropsychiatric symptoms, and pigment loss. Due to the lack of melanin, affected children often present with yellow hair, pale skin and sclera, and their urine has a mousy odor. They may also suffer from eczema, vomiting, and diarrhea. Phenylketonuria is one of the few treatable hereditary metabolic diseases, so it generally does not cause symptoms of a cold.

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Written by Hu Qi Feng
Pediatrics
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Mechanism of phenylketonuria

Phenylketonuria is characterized by reduced activity of phenylalanine hydroxylase, which fails to convert phenylalanine to tyrosine, causing extremely elevated levels of phenylalanine in the blood, cerebrospinal fluid, and tissues. This leads to the production of large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid via alternative pathways. High concentrations of phenylalanine and its metabolic products can cause brain damage, which manifests as developmental intellectual disabilities, changes in skin and hair pigmentation, and a mousy urine odor, all part of a clinical syndrome.

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Written by Zeng Hai Jiang
Pediatrics
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Can phenylketonuria be detected before a newborn is born?

Phenylketonuria can be screened prenatally before the birth of a newborn. The procedure involves genetic screening using amniotic fluid drawn through amniocentesis between the 16th and 20th week of pregnancy. Phenylketonuria is an autosomal recessive hereditary disease, greatly associated with chromosomal abnormalities. If chromosomal abnormalities are detected through amniocentesis, indicating the presence of pathogenic genes, it confirms that the fetus will be born with phenylketonuria. If both parents carry the relevant genes, prenatal screening is still necessary to rule out the risk of the disease in the fetus.