What should not be eaten with phenylketonuria?

Written by Yan Xin Liang
Pediatrics
Updated on June 17, 2025
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Phenylketonuria is primarily due to a deficiency of phenylalanine hydroxylase in the body, which leads to the inability of phenylalanine to convert to tyrosine, resulting in the accumulation of phenylalanine and ketones, which are then excreted in the urine, causing a series of clinical symptoms. The main clinical manifestations of phenylketonuria are intellectual disability, psychiatric and neurological symptoms, and urine that smells like mouse. The treatment of phenylketonuria mainly involves a low-phenylalanine diet, maintaining the concentration of phenylalanine within a certain range. Therefore, the diet generally should not include foods high in phenylalanine concentration. At the same time, it is necessary to monitor the concentration of phenylalanine in the blood, as levels that are too high or too low are detrimental to a baby's growth and development. Treatment generally includes feeding with specialized low-phenylalanine formula, and during childhood, food intake can include starches, vegetables, fruits, and other low-protein foods, so it is important to consume high-protein foods sparingly.

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Written by Yan Xin Liang
Pediatrics
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What is the normal value for phenylketonuria?

Phenylketonuria is a common autosomal recessive genetic disorder and the most common congenital amino acid metabolism disorder. It primarily manifests as intellectual disability, light skin and hair pigmentation, and a mousey urine odor. Newborn screening includes routine screening for phenylketonuria as it is a treatable hereditary metabolic disorder, emphasizing the importance of early diagnosis and treatment. Nowadays, newborn screening systems are widely implemented. Generally, this involves collecting a blood sample through a heel prick, dropping the blood on specialized filter paper, and then air drying before sending it to a screening laboratory to measure the phenylalanine concentration. Typically, a normal concentration should be less than 120 micromoles per liter. If the phenylalanine concentration exceeds 1200 micromoles per liter, it can be diagnosed as classical phenylketonuria.

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Written by Tong Peng
Pediatrics
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Does phenylketonuria have a distinctive facial appearance?

Phenylketonuria is characterized by a specific facial appearance, primarily presenting with pale skin and yellow hair. Some affected children may develop eczema due to a disruption in melanin synthesis, which results in a distinctive skin color. Additionally, there are neuropsychiatric abnormalities, such as intellectual disability, increased excitability, and heightened muscle tone. The urine of patients has a plastic-like smell, largely because phenylketonuria is a hereditary metabolic disease. Newborns exhibit hyperphenylalaninemia, but as harmful metabolites of phenylalanine are not present in high concentrations before feeding begins, initial conditions at birth are often normal. However, as diet is introduced and metabolite concentrations increase, specific clinical symptoms, including severe cases of epileptic seizures manifested as infantile spasms, nodding seizures, or other forms, become evident. Therefore, dietary management is essential in treatment.

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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria has what symptoms?

Phenylketonuria is an autosomal recessive genetic disorder. It is the most common congenital amino acid metabolism disorder. Its main clinical characteristics include intellectual disability, light skin and hair pigmentation, and a mousy urine odor. This name arises from the excretion of large amounts of phenylketonic acid metabolites in children's urine, which leads to the characteristic odor. Typically, affected children appear normal at birth, but symptoms usually begin to appear between three to six months of age, with most significant symptoms evident by one year. The most prominent issue is delayed intellectual development, with intelligence quotients often falling below normal. Skin pigmentation usually becomes lighter several months after birth due to insufficient melanin synthesis, resulting in hair turning from black to yellow and a paler skin complexion. Additionally, a distinct mousy body odor is produced due to the excretion of excessive phenylacetic acid in urine and sweat.

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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
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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.