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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Phenylketonuria patients lack phenylalanine hydroxylase.

Phenylketonuria is an autosomal recessive genetic disorder caused by mutations in the phenylalanine hydroxylase gene, leading to reduced enzyme activity and resulting in the accumulation of phenylalanine and its metabolic products in the body, causing the disease. Phenylketonuria is the most common congenital amino acid metabolism disorder, clinically presenting with intellectual developmental delays, lighter skin and hair pigmentation, and a musty urine odor. The disease is mainly caused by mutations in the phenylalanine hydroxylase gene, leading to reduced enzyme activity.

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Written by Wu Ben Rong
Pediatrics
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Can phenylketonuria be treated with surgery?

Phenylketonuria (PKU) in children cannot be treated surgically. PKU is an autosomal recessive genetic disorder caused by a deficiency in the enzyme needed for the metabolic pathway of phenylalanine. Typically, there are no obvious symptoms in newborns, although some children may experience non-specific symptoms such as vomiting and feeding difficulties. If no relevant treatment is pursued, the child may gradually show signs of developmental delays in movement and intellect, and the hair might change from black to yellow while the skin tends to be paler. As the child grows older, the intellectual delays become more pronounced, and in severe cases, they might develop cerebral palsy. This disease can be treated in its early stages through dietary methods, and the younger the age at which treatment begins, the better the outcomes.

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Written by Zeng Hai Jiang
Pediatrics
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Phenylketonuria treatment duration before discontinuation

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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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 Yan Xin Liang
Pediatrics
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Why does phenylketonuria lead to intellectual disability?

Phenylketonuria is a common amino acid metabolic disease, mainly due to the deficiency of phenylalanine hydroxylase, which prevents phenylalanine from being transformed into tyrosine, leading to the accumulation of phenylalanine and its keto acids. Due to the lack of tyrosine in the body, it affects the growth and development of the brain, resulting in intellectual developmental delays. Therefore, children with phenylketonuria often exhibit intellectual disabilities, as well as some psychiatric and neurological symptoms, such as increased muscle tone, restlessness, hyperactivity, abnormal behavior, and heightened excitability.