Does phenylketonuria definitely cause intellectual disabilities when one grows up?

Written by Zeng Hai Jiang
Pediatrics
Updated on March 04, 2025
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Phenylketonuria is a common amino acid metabolic disorder that is due to a deficiency of phenylalanine hydroxylase in the phenylalanine metabolic pathway, leading to metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first genetic metabolic disorder that can be controlled and treated through diet. Once diagnosed, natural diet should be discontinued for the patient, and a low-phenylalanine diet should be administered. If phenylketonuria is diagnosed and treated early, intelligence can be normal. However, if not controlled, it can lead to delayed growth and development, especially in terms of intellectual development.

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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 Zeng Hai Jiang
Pediatrics
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When do people with phenylketonuria need to eat a special diet until?

Phenylketonuria is the first genetic metabolic disease that can be treated through dietary control. Since natural foods contain certain amounts of phenylalanine, once children with phenylketonuria are diagnosed, they should stop consuming a natural diet and start a low-phenylalanine diet treatment. Treatment with a low-phenylalanine formula should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, gradually small amounts of natural diet can be reintroduced. The food added should adhere to the principles of being low in protein and phenylalanine.

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Written by Yan Xin Liang
Pediatrics
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Is the incidence of phenylketonuria high?

Phenylketonuria is an autosomal recessive hereditary disease and is the most common congenital amino acid metabolic disorder. The main clinical manifestations include distinctive features such as intellectual disability, light skin and hair pigmentation, and a mouse-like urine odor, which is named after the large amounts of phenylketone acid metabolites excreted in the urine. The incidence of this disease varies by race and region, and the overall incidence in China is approximately 1:11,000, meaning one in eleven thousand. The incidence is higher in the northern population than in the southern population, though it is not particularly high.

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Written by Zeng Hai Jiang
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How to determine if phenylketonuria is mild

Phenylketonuria severity is generally determined by clinical manifestations and blood phenylalanine concentration. Mild phenylketonuria is characterized by mild or asymptomatic intelligence, motor, and developmental delays, light hair and skin color, and a musty odor in urine and sweat. It includes clinical features such as seizures accompanied by abnormal mental and behavioral symptoms, with blood phenylalanine levels less than 120 to 360 micromoles per liter. This is primarily seen in a very small number of newborns or premature infants, or in cases where there is higher residual activity of phenylalanine hydroxylase enzyme.

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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria is what type of inheritance?

Phenylketonuria is an autosomal recessive genetic disorder and is the most common congenital amino acid metabolism disorder. The main clinical features include intellectual disability, pale skin and hair pigmentation, and a mouse-like urine smell. This condition is named after the high levels of phenylketonic acid metabolites excreted in the urine of affected patients. Phenylketonuria is an autosomal recessive genetic disease, and its primary pathological mechanism is due to the lack of phenylalanine hydroxylase, which fails to convert phenylalanine into tyrosine, leading to increased concentrations of phenylalanine in the blood, cerebrospinal fluid, and various tissues. Because the main metabolic pathway is blocked, secondary metabolic pathways are enhanced, leading to the deamination of phenylalanine and the production of large amounts of phenylketonic acid. Through oxidation, this produces byproducts such as phenylacetic acid, phenyllactic acid, and para-hydroxyphenylketonic acid, thereby resulting in a series of clinical symptoms.