Why does phenylketonuria lead to intellectual disability?

Written by Yan Xin Liang
Pediatrics
Updated on April 27, 2025
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Phenylketonuria is a common amino acid metabolic disease, mainly due to the deficiency of phenylalanine hydroxylase, which prevents phenylalanine from being transformed into tyrosine, leading to the accumulation of phenylalanine and its keto acids. Due to the lack of tyrosine in the body, it affects the growth and development of the brain, resulting in intellectual developmental delays. Therefore, children with phenylketonuria often exhibit intellectual disabilities, as well as some psychiatric and neurological symptoms, such as increased muscle tone, restlessness, hyperactivity, abnormal behavior, and heightened excitability.

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Written by Zeng Hai Jiang
Pediatrics
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What foods should children with phenylketonuria eat?

Phenylketonuria is a common amino acid metabolic disorder, an autosomal recessive genetic disease, and a type of hereditary metabolic disease that can be treated through dietary control. All natural foods contain certain amounts of phenylalanine. Therefore, once diagnosed, children should stop consuming natural diets and start treatment with a phenylalanine-restricted diet, including low-phenylalanine yogurt. Treatment should continue at least until the age of 12. When the concentration of blood phenylalanine is controlled at an ideal level, gradually add small amounts of natural food, adhering to the principle of low protein and low phenylalanine in the added foods.

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Written by Yan Xin Liang
Pediatrics
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Why can't people with phenylketonuria eat vitamin C?

Phenylketonuria is a common amino acid metabolic disorder. It primarily occurs because the patient's liver lacks phenylalanine hydroxylase, leading to the inability of phenylalanine to convert into tyrosine. This causes phenylalanine to accumulate in large amounts in the body, and it cannot be excreted through urine, presenting some corresponding clinical symptoms. The diet for phenylketonuria mainly involves avoiding high-protein foods, such as dairy, eggs, and soy products. Additionally, spicy, raw, and greasy foods should be avoided as they can negatively impact the health of the child. It is also beneficial to include starch-rich foods in the diet, such as potato starch, vermicelli, pumpkin, and Chinese yam, as these foods are low in phenylalanine and high in carbohydrates. Furthermore, vitamin C can be consumed without restrictions in cases of phenylketonuria, and it should be taken in moderation.

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Written by Yan Xin Liang
Pediatrics
41sec home-news-image

Why does phenylketonuria lead to intellectual disability?

Phenylketonuria is a common amino acid metabolic disease, mainly due to the deficiency of phenylalanine hydroxylase, which prevents phenylalanine from being transformed into tyrosine, leading to the accumulation of phenylalanine and its keto acids. Due to the lack of tyrosine in the body, it affects the growth and development of the brain, resulting in intellectual developmental delays. Therefore, children with phenylketonuria often exhibit intellectual disabilities, as well as some psychiatric and neurological symptoms, such as increased muscle tone, restlessness, hyperactivity, abnormal behavior, and heightened excitability.

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Written by Hu Qi Feng
Pediatrics
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Phenylketonuria lacks what enzyme?

Phenylketonuria is an autosomal recessive genetic disorder caused by a mutation in the phenylalanine hydroxylase gene, which leads to reduced enzyme activity and the accumulation of phenylalanine and its metabolites in the body, resulting in disease. Phenylketonuria is the most common congenital disorder of amino acid metabolism, clinically characterized by developmental delays in intelligence, light pigmentation of the skin and hair, and a mousey odor to the urine. It is often due to a deficiency of phenylalanine hydroxylase.

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Written by Zeng Hai Jiang
Pediatrics
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Does phenylketonuria require chromosome testing?

Phenylketonuria is usually screened during the neonatal period through routine blood testing, where the level of phenylalanine in the blood is measured to screen each newborn. This enables early diagnosis and treatment, hence reducing the occurrence of intellectual disabilities. Phenylketonuria can also be screened prenatally before the birth of the newborn. It is an autosomal recessive genetic disorder, closely related to chromosomal abnormalities. Therefore, prenatal screening can be conducted by amniocentesis between the 16th to 20th weeks of pregnancy. Chromosomal abnormalities detected through the amniocentesis indicate that the fetus carries the pathogenic gene, meaning the child will be born with phenylketonuria. If both parents carry related genes, it is crucial to undergo prenatal screening and chromosomal analysis to eliminate the risk of the fetus developing the condition.