Why can't people with phenylketonuria eat vitamin C?

Written by Yan Xin Liang
Pediatrics
Updated on April 18, 2025
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Phenylketonuria is a common amino acid metabolic disorder. It primarily occurs because the patient's liver lacks phenylalanine hydroxylase, leading to the inability of phenylalanine to convert into tyrosine. This causes phenylalanine to accumulate in large amounts in the body, and it cannot be excreted through urine, presenting some corresponding clinical symptoms. The diet for phenylketonuria mainly involves avoiding high-protein foods, such as dairy, eggs, and soy products. Additionally, spicy, raw, and greasy foods should be avoided as they can negatively impact the health of the child. It is also beneficial to include starch-rich foods in the diet, such as potato starch, vermicelli, pumpkin, and Chinese yam, as these foods are low in phenylalanine and high in carbohydrates. Furthermore, vitamin C can be consumed without restrictions in cases of phenylketonuria, and it should be taken in moderation.

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Written by Yan Xin Liang
Pediatrics
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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 Zeng Hai Jiang
Pediatrics
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Can phenylketonuria cause hair to turn white?

Phenylketonuria is caused by a mutation in the phenylalanine hydroxylase gene, resulting in reduced or lost enzyme activity, and a metabolic disorder of phenylalanine in the liver. Children with phenylketonuria lack phenylalanine hydroxylase, leading to reduced tyrosine and normal metabolic products. The content of phenylalanine in the blood increases, secondary metabolic pathways are enhanced, producing phenylpyruvic acid, phenylacetic acid, and phenyllactic acid, which are excreted in large amounts in the urine. High concentrations of phenylalanine and its abnormal metabolic products inhibit tyrosinase, leading to disturbances in melanin synthesis. Therefore, untreated children will gradually show changes in hair color from black to yellow and skin lightening after three months.

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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 Hu Qi Feng
Pediatrics
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The pathogenesis of phenylketonuria

Phenylketonuria is an amino acid metabolic disease caused by a deficiency of phenylalanine hydroxylase. Phenylalanine is an essential amino acid for the human body, and it is partially converted into tyrosine by phenylalanine hydroxylase. Due to the reduced activity of phenylalanine hydroxylase, phenylalanine cannot be transformed into tyrosine. This leads to extremely high concentrations of phenylalanine in the blood, cerebrospinal fluid, and tissues. Through alternative metabolic pathways, large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and others are produced. High concentrations of phenylalanine and its metabolic products can cause brain damage.

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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.