Can phenylketonuria be treated?

Written by Yan Xin Liang
Pediatrics
Updated on September 04, 2024
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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 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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Can phenylketonuria be detected before a newborn is born?

Phenylketonuria can be screened prenatally before the birth of a newborn. The procedure involves genetic screening using amniotic fluid drawn through amniocentesis between the 16th and 20th week of pregnancy. Phenylketonuria is an autosomal recessive hereditary disease, greatly associated with chromosomal abnormalities. If chromosomal abnormalities are detected through amniocentesis, indicating the presence of pathogenic genes, it confirms that the fetus will be born with phenylketonuria. If both parents carry the relevant genes, prenatal screening is still necessary to rule out the risk of the disease in the fetus.

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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 Wu Ben Rong
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Is phenylketonuria related to a baby's face turning dark?

Baby's dark complexion is not directly related to phenylketonuria (PKU). Phenylketonuria is a relatively common amino acid metabolism disorder caused by a deficiency in the enzyme needed for the metabolic pathway of phenylalanine, preventing it from being converted into tyrosine. This leads to the accumulation of phenylalanine and keto acids in the body, which are then excreted in large amounts through urine. Children with phenylketonuria may have lighter hair and skin color within months of birth due to insufficient melanin synthesis. Typically, their skin is very pale; therefore, if a child has darker facial skin, it is not related to phenylketonuria. This condition might be due to genetic factors or prolonged exposure to the sun among other reasons.

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Written by Yan Xin Liang
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How is phenylketonuria cured?

Phenylketonuria is an autosomal recessive genetic disease, primarily due to a mutation in the phenylalanine hydroxylase gene which leads to reduced enzymatic activity, causing the accumulation of phenylalanine and its metabolites in the body, thereby leading to this disease. The main manifestations include developmental intellectual disabilities, light skin and hair pigmentation, and a musty urine odor. Once diagnosed, immediate treatment is necessary, mainly using a low-phenylalanine formula milk. Generally, when orally administering low-phenylalanine formula milk, it is essential to monitor the phenylalanine levels in the blood. Since each patient has a different tolerance level for phenylalanine, periodic determination of blood phenylalanine concentration is required in the dietary treatment. Such patients can only be treated long-term in this way; it is not curable nor can it be completely eradicated; treatment can only alleviate the symptoms and involves long-term administration of a low-phenylalanine diet.