Can people with phenylketonuria eat meat?

Written by Zeng Hai Jiang
Pediatrics
Updated on February 01, 2025
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Children with phenylketonuria should not eat meat and should try to eat as little as possible. Phenylketonuria is caused by a defect in the phenylalanine hydroxylase enzyme in the phenylalanine metabolic pathway, which results in a metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first hereditary metabolic disease that can be treated by dietary control. All natural foods contain a certain amount of phenylalanine. Once diagnosed, children should stop consuming a natural diet and be given a low-phenylalanine diet for treatment. Meat is rich in protein and also contains a high amount of phenylalanine, thus the intake of meat must be restricted or minimized.

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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 Yan Xin Liang
Pediatrics
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Does phenylketonuria affect intelligence?

Phenylketonuria is a common amino acid metabolic disease, primarily caused by a deficiency of phenylalanine hydroxylase in the metabolic pathway of phenylalanine, preventing phenylalanine from converting into tyrosine. This leads to the accumulation of phenylalanine and its ketones in the body, which are then excreted in large amounts through urine. Its clinical manifestations are not uniform. The main clinical characteristic is intellectual disability, thus it does affect intelligence. Additionally, it can present various neuropsychiatric symptoms such as increased muscle tone, hyperreflexia, agitation, hyperactivity, convulsions, etc. It can also lead to reduced skin pigmentation and yellowing of hair among other symptoms. This disease can impact intelligence.

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Written by Zeng Hai Jiang
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Can phenylketonuria cause hair to turn white?

Phenylketonuria is caused by a mutation in the phenylalanine hydroxylase gene, resulting in reduced or lost enzyme activity, and a metabolic disorder of phenylalanine in the liver. Children with phenylketonuria lack phenylalanine hydroxylase, leading to reduced tyrosine and normal metabolic products. The content of phenylalanine in the blood increases, secondary metabolic pathways are enhanced, producing phenylpyruvic acid, phenylacetic acid, and phenyllactic acid, which are excreted in large amounts in the urine. High concentrations of phenylalanine and its abnormal metabolic products inhibit tyrosinase, leading to disturbances in melanin synthesis. Therefore, untreated children will gradually show changes in hair color from black to yellow and skin lightening after three months.

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Written by Zeng Hai Jiang
Pediatrics
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What tests do parents with phenylketonuria undergo?

Parents with phenylketonuria can undergo chromosome testing. Phenylketonuria is a common amino acid metabolic disease and an autosomal recessive genetic disorder. Currently, it is mainly screened after the birth of the child by testing the blood for phenylketonuria. Phenylketonuria can also be screened prenatally before the birth of the newborn. Screening can be conducted by extracting amniotic fluid from the pregnant woman for genetic screening through amniocentesis between the 16th and 20th weeks of pregnancy. If chromosomal abnormalities are detected through amniocentesis, it indicates that the fetus carries the pathogenic gene, proving that the child will have phenylketonuria after birth. Couples carrying related genes also need to undergo prenatal screening.

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Written by Yan Xin Liang
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Causes of Phenylketonuria

The cause of phenylketonuria is that phenylalanine is an essential amino acid for the human body. Some of the phenylalanine ingested is used for protein synthesis, while another part is converted into tyrosine by the action of phenylalanine hydroxylase. Only a small amount of phenylalanine undergoes a secondary metabolic pathway and is converted into phenylpyruvate under the action of transaminase. Due to the reduced activity of phenylalanine hydroxylase in affected children, phenylalanine cannot be converted into tyrosine, leading to an extremely high concentration of phenylalanine in blood, cerebrospinal fluid, and tissues. This, through a bypass metabolic pathway, results in the production of a large amount of phenylpyruvate, phenylacetate, phenyllactate, and p-hydroxyphenylacetate. The high concentration of phenylalanine and its metabolic products then leads to brain damage, which is the cause of the disease.