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 Yan Xin Liang
Pediatrics
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Is phenylketonuria characterized only by pale facial skin?

Phenylketonuria is a common amino acid metabolic disorder. It is primarily due to the deficiency of phenylalanine hydroxylase, which prevents the conversion of phenylalanine to tyrosine, leading to a series of clinical symptoms. These can manifest as intellectual disability, neuropsychiatric symptoms, eczema, skin scratching, pigment loss, and a musty odor. The skin whiteness mentioned is not merely facial pallor; it affects the entire skin because the benefits of tyrosine are reduced, leading to decreased melanin synthesis. Consequently, the hair of affected children can also be lighter and tend to be brown.

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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.

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Written by Zeng Hai Jiang
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Do adults with phenylketonuria need to eat special food?

Phenylketonuria may not necessarily require a special diet in adulthood. It is the first genetic metabolic disorder that can be treated through dietary control. Natural foods all contain a certain amount of phenylalanine, so once children with phenylketonuria are diagnosed, they should stop their natural diet and instead be given a low-phenylalanine diet. Low-phenylalanine formula treatment should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, a gradual addition of natural foods can be made. Larger infants and children can add foods such as milk, porridge, noodles, and eggs. However, these added foods should still primarily be low in protein and low in phenylalanine.

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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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What tests do parents with phenylketonuria undergo?

Parents with phenylketonuria can undergo chromosome testing. Phenylketonuria is a common amino acid metabolic disease and an autosomal recessive genetic disorder. Currently, it is mainly screened after the birth of the child by testing the blood for phenylketonuria. Phenylketonuria can also be screened prenatally before the birth of the newborn. Screening can be conducted by extracting amniotic fluid from the pregnant woman for genetic screening through amniocentesis between the 16th and 20th weeks of pregnancy. If chromosomal abnormalities are detected through amniocentesis, it indicates that the fetus carries the pathogenic gene, proving that the child will have phenylketonuria after birth. Couples carrying related genes also need to undergo prenatal screening.