Does phenylketonuria easily cause a cold?

Written by Tong Peng
Pediatrics
Updated on March 11, 2025
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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 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 Yan Xin Liang
Pediatrics
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How is phenylketonuria tested?

Phenylketonuria is a treatable inherited metabolic disease, and early diagnosis is essential for early treatment. Currently, we have generally implemented a newborn disease screening system that requires collecting peripheral blood by pricking the heel of newborns after three days of breastfeeding, dropping the blood onto specialized filter paper and sending it to a screening laboratory for phenylalanine concentration measurement. If the concentration exceeds the confirmed value, further differential diagnosis and confirmation are needed. If treatment can begin early, especially within two to three weeks after birth, the prognosis is generally good. Normally, the concentration is less than 120 µmol/L; a fetal concentration of 1200 µmol/L would be considered mild phenylketonuria.

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Written by Zeng Hai Jiang
Pediatrics
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Can patients with phenylketonuria eat fish and shrimp?

Children with phenylketonuria cannot eat fish and shrimp because phenylketonuria is caused by a deficiency of phenylalanine hydroxylase in the phenylalanine metabolic pathway, leading to metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first hereditary metabolic disease that can be controlled by diet, as natural foods contain certain amounts of phenylalanine. Therefore, once diagnosed, children with phenylketonuria should stop consuming a natural diet and should be treated with a low phenylalanine diet. Fish and shrimp contain rich protein and high levels of phenylalanine, hence children with phenylketonuria cannot eat fish and shrimp.

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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 Yan Xin Liang
Pediatrics
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Phenylketonuria positive means what?

Phenylketonuria is an autosomal recessive inherited disease and is the most common congenital amino acid metabolism disorder. Generally, if the activity of phenylalanine hydroxylase in the body is reduced, or if there is a deficiency in its coenzyme tetrahydrobiopterin, the concentration of phenylalanine in the blood and tissues will increase, and phenylpyruvic acid, phenylacetic acid, and phenyllactic acid in the urine will also increase. Generally, newborns may not show any special clinical features at first. Often, the first test results may be high due to maternal influence or dietary factors, which can cause these elevated indicators in newborns. If the second test is normal, there usually isn’t a significant problem. A third test can also be performed; if the third test still shows no issues, then phenylketonuria can be ruled out. Generally, if phenylketonuria is diagnosed, it should be treated promptly and properly.