The earliest manifestation of phenylketonuria

Written by Yan Xin Liang
Pediatrics
Updated on September 29, 2024
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Children with phenylketonuria usually start showing symptoms within 3 to 6 months after birth: Firstly, the nervous system is affected, which can be seen in developmental delays in intelligence, often with IQs lower than normal. Symptoms may include restlessness, depression, hyperactivity, or minor epileptic seizures. A few may exhibit increased muscle tone or heightened tendon reflexes. A few months after birth, due to insufficient melanin synthesis, the skin and hair undergo changes. Hair color may shift from black to yellow, the skin may appear very pale, and eczema is also more common. Additionally, because of the excretion of greater amounts of phenylacetic acids in urine and sweat, there may be a distinct mouse-like urine odor.

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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 Yan Xin Liang
Pediatrics
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Can phenylketonuria be treated?

Can phenylketonuria be treated? Yes, it can be treated, and treatment should begin immediately once diagnosed. The younger the age at which treatment begins, the better the prognosis. Infants are generally treated with low-phenylalanine formula milk. Once the blood phenylalanine concentration drops to an ideal level, natural foods can gradually be added in small amounts, with a preference for adding breast milk, since it contains only one-third the phenylalanine content of cow's milk. Older infants and children can add foods like milk, porridge, noodles, and eggs. Added foods should follow the principle of being low in protein and phenylalanine. The amount and frequency of these foods should be determined based on the blood phenylalanine concentration. Concentrations that are too high or too low can affect the growth and development of the child. As each child's tolerance to phenylalanine concentration differs, it is necessary to regularly measure the blood phenylalanine concentration during dietary treatment and adjust the diet according to the specific situation of the child, avoiding increased phenylalanine levels or deficiency.

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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria is caused by how?

Phenylketonuria is caused by how? It is an autosomal recessive genetic disease, mainly due to a mutation in the phenylalanine hydroxylase gene, which leads to a reduction in the activity of phenylalanine hydroxylase. Phenylalanine is an essential amino acid in the human body. The phenylalanine ingested is partly used for protein synthesis, and the rest is converted into tyrosine by the action of phenylalanine hydroxylase, with only a small amount of phenylalanine being converted into phenylpyruvic acid through a minor metabolic pathway under the action of transaminase. Due to the reduced activity of phenylalanine hydroxylase, phenylalanine cannot be converted into tyrosine, resulting in an extremely high concentration of phenylalanine in the blood, cerebrospinal fluid, and tissues. Through a bypass metabolism, a large amount of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid are produced. High concentrations of phenylalanine and its metabolites thus lead to brain damage. Due to the synthesis disorder of tyrosine, this also leads to symptoms such as light skin and hair pigmentation.

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Written by Zeng Hai Jiang
Pediatrics
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How long does it take for phenylketonuria to manifest?

Phenylketonuria is a common amino acid metabolic disease. Most infants appear normal at birth and do not show any specific clinical symptoms during the neonatal period, although some newborns may experience symptoms such as feeding difficulties, vomiting, or irritability. Symptoms of phenylketonuria gradually appear in the first three months after birth, including changes such as hair turning from black to yellow, skin whitening, delayed growth and intellectual development, seizures, hyperactive reflexes, eczema, etc. The sweat and urine of affected children will have a mouse-like odor.

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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.