Does phenylketonuria require a lifetime of special milk consumption?

Written by Zeng Hai Jiang

Pediatrics

Updated on November 22, 2024

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Phenylketonuria does not require a lifetime of special milk consumption. It is the first genetically inherited metabolic disorder that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and begin treatment with a low-phenylalanine diet. The low-phenylalanine milk formula should be consumed at least until the age of 12. When the concentration of phenylalanine in the blood is controlled within the ideal range, it is possible to appropriately add a small amount of natural diet, adhering to principles of low protein and low phenylalanine.

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Written by Yan Xin Liang

Pediatrics

1min 7sec

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Can phenylketonuria be cured?

Phenylketonuria is one of the few treatable genetic metabolic diseases. It strives for early diagnosis and treatment to avoid irreversible damage to the nervous system. Once diagnosed, aggressive treatment should be given. The younger the age at which treatment starts, the better the effect. The main approach is to use a low-phenylalanine formula milk. When the blood concentration drops to a normal level, natural diet can gradually be added in small amounts, with breast milk being the preferred choice, as it contains only one-third the phenylalanine of cow's milk. Larger infants can add cow's milk, porridge, noodles, eggs, etc. The added foods should also follow the principle of being low in protein and low in phenylalanine, because concentrations of phenylalanine that are too high or too low will affect growth and development. Low-phenylalanine treatment should continue at least until after puberty. Lifelong treatment is more beneficial for patients. This disease can only control symptoms, and lifelong treatment is the best; it cannot be completely cured.

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Written by Quan Xiang Mei

Pediatrics

1min 2sec

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Does phenylketonuria cause liver dysfunction?

Phenylketonuria generally does not cause abnormalities in liver function. Phenylketonuria is a common amino acid metabolic disorder, mainly due to a deficiency of an enzyme in the phenylalanine metabolic pathway, preventing phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its keto acids, which are then excreted in large amounts in the urine. This disease is a relatively common genetic amino acid metabolic defect. Once diagnosed with phenylketonuria, the main treatment is a dietary therapy, which includes a low-phenylalanine diet. It is important during the upbringing of children to ensure that the child's living environment is quiet and comfortable. Therefore, in terms of prevention of the disease, it is important to avoid consanguineous marriage, conduct newborn screening, and focus on early detection and early treatment.

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Written by Zeng Hai Jiang

Pediatrics

1min 2sec

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Does phenylketonuria require lifelong dietary control?

Theoretically, phenylketonuria requires lifelong dietary control. Phenylketonuria is caused by a deficiency in phenylalanine hydroxylase in the metabolic pathway of phenylalanine, leading to disordered metabolism of phenylalanine in the liver. Phenylketonuria is the first genetic metabolic disease that can be managed through diet. Since natural foods all contain certain amounts of phenylalanine, once diagnosed, affected children should cease consuming natural diets and should be treated with a low-phenylalanine diet. 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, natural foods can gradually be reintroduced in small amounts. The reintroduction of food should still follow the principles of low protein and low phenylalanine. The types and amounts of food that each child can add vary individually and are related to the severity of the enzyme deficiency.

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Written by Zeng Hai Jiang

Pediatrics

52sec

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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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Written by Yan Xin Liang

Pediatrics

1min 13sec

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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.