Phenylketonuria treatment duration before discontinuation

Written by Zeng Hai Jiang
Pediatrics
Updated on February 17, 2025
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Phenylketonuria is the first genetic metabolic disease that can be treated through dietary control. Once diagnosed with phenylketonuria, active treatment must be given, ceasing a natural diet and implementing a low-phenylalanine diet. Generally, a low-phenylalanine milk formula should be administered at least until the age of three. When the concentration of phenylalanine in the blood is adjusted to an ideal range, a small amount of natural diet can gradually be reintroduced. The reintroduced diet should still adhere to low-protein and low-phenylalanine standards.

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Written by Yan Xin Liang
Pediatrics
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How is phenylketonuria diagnosed?

How is phenylketonuria diagnosed? Firstly, we start with screening, which is usually done when the newborn is 3 to 7 days old by heel prick to collect peripheral blood, which is then dropped onto specialized filter paper for the determination of phenylalanine concentration. If the concentration of phenylalanine is above the cutoff value, further determination of phenylalanine concentration is conducted. The normal concentration is less than 120 umol/L. If the concentration of phenylalanine is greater than 1200 umol/L, it suggests severe phenylketonuria. Moderate levels are above 360 umol/L, and mild levels are above 120 umol/L but less than 360 umol/L. Furthermore, diagnosis can be confirmed through DNA analysis, currently available tests include screening for mutations in the phenylalanine hydroxylase gene.

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When do people with phenylketonuria need to eat a special diet until?

Phenylketonuria is the first genetic metabolic disease that can be treated through dietary control. Since natural foods contain certain amounts of phenylalanine, once children with phenylketonuria are diagnosed, they should stop consuming a natural diet and start a low-phenylalanine diet treatment. 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, gradually small amounts of natural diet can be reintroduced. The food added should adhere to the principles of being low in protein and phenylalanine.

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Can phenylketonuria be cured?

Once phenylketonuria is diagnosed, immediate treatment is necessary; the younger the age at which treatment is started, the better the prognosis. The main approach is to use a low phenylalanine formula milk for treatment. Once the blood phenylalanine concentration has decreased to the desired level, we can gradually begin adding small amounts of natural diet. For small infants, breast milk is preferred since it contains much less phenylalanine than cow's milk. For older infants, additions such as cow's milk, porridge, noodles, and eggs are acceptable, but supplements should still follow the principle of being low in protein and phenylalanine. The amount and frequency of these additions should be determined based on the phenylalanine concentration, as too high or too low levels can affect growth and development. This condition can only be managed by controlling symptoms and maintaining blood phenylalanine levels. Long-term treatment is required; it cannot be cured, only controlled.

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Phenylketonuria Test Methods

The examination methods for phenylketonuria primarily include newborn screenings usually performed three to seven days after birth by drawing a blood sample from the heel and placing drops on specialized blood collection filter paper. Once dried, the sample is sent to a screening laboratory to determine the concentration of phenylalanine. If the phenylalanine concentration exceeds the cutoff value, further examinations and confirmatory tests are necessary, with the confirmatory test involving the measurement of phenylalanine concentration. Another method involves the analysis of urinary pterin profile, mainly used to differentiate dihydrobiopterin reductase deficiency. Additionally, gene analysis can be applied to detect mutations in genes such as phenylalanine hydroxylase, aiding in genetic diagnoses and prenatal diagnoses.

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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.