Can phenylketonuria be treated with surgery?

Written by Wu Ben Rong
Pediatrics
Updated on November 08, 2024
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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 Yan Xin Liang
Pediatrics
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Phenylketonuria lacks what enzyme?

Phenylketonuria is an autosomal recessive genetic disorder primarily caused by mutations in the phenylalanine hydroxylase gene. This leads to reduced activity of phenylalanine hydroxylase, accumulation of phenylalanine and its metabolites in the body, and the onset of the disease. Phenylketonuria is the most common congenital amino acid metabolism disorder. Clinically, it is mainly characterized by intellectual developmental delays, light skin and hair pigmentation, and a mousey urine odor. The incidence of this disease varies by ethnicity and region. In China, the incidence is approximately 1 in 11,000.

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Written by Yao Li Qin
Pediatrics
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Phenylketonuria should be treated in which department?

Phenylketonuria is a common autosomal recessive genetic disorder due to a deficiency in the enzymes involved in the metabolic pathway of phenylalanine. It is a genetic metabolic disease. After the birth of a child, newborn screening is conducted for this disease. If a child is diagnosed with phenylketonuria or suspected of having the condition, it is common to visit a pediatric neurology department at a children's hospital. Phenylketonuria mainly causes varying degrees of intellectual disability, and some children may even experience epileptic seizures. Additionally, about 90% of affected children gradually develop lighter skin and hair, reduced iris pigmentation, dry skin, eczema, and a distinctive mouse-like urine odor, which is due to the excretion of phenylacetic acid in urine and sweat. It is a challenging genetic metabolic disorder to treat, requiring special dietary management. It is advisable to bring the child to the pediatric neurology department. Some hospitals may have a specialized department for genetic metabolic diseases. If such a department is available, it is recommended to consult there; otherwise, pediatric neurology is the appropriate alternative.

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Written by Zeng Hai Jiang
Pediatrics
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What foods should children with phenylketonuria eat?

Phenylketonuria is a common amino acid metabolic disorder, an autosomal recessive genetic disease, and a type of hereditary metabolic disease that can be treated through dietary control. All natural foods contain certain amounts of phenylalanine. Therefore, once diagnosed, children should stop consuming natural diets and start treatment with a phenylalanine-restricted diet, including low-phenylalanine yogurt. Treatment should continue at least until the age of 12. When the concentration of blood phenylalanine is controlled at an ideal level, gradually add small amounts of natural food, adhering to the principle of low protein and low phenylalanine in the added foods.

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Written by Yan Xin Liang
Pediatrics
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The causes of phenylketonuria

Phenylketonuria is a common autosomal recessive genetic disorder, the most frequent primary clinical manifestation among congenital amino acid metabolic disorders. It is characterized by intellectual disability, pale skin and hair pigmentation, and a mouse urine-like odor. The main cause is that phenylalanine is an essential amino acid for the human body. The phenylalanine ingested is partly used for protein synthesis and partly converted to tyrosine by the action of phenylalanine hydroxylase, which is necessary for the synthesis of substances like adrenaline, melanin, and thyroxine. The disease is mainly due to a deficiency of phenylalanine hydroxylase, which inhibits the conversion of phenylalanine to tyrosine, resulting in increased concentrations of phenylalanine in the blood, cerebrospinal fluid, and various tissues. At the same time, due to the predominance of the main pathway, the enhancement of the secondary metabolic pathway leads to the deamination of phenylalanine by transaminase, producing a large amount of phenylpyruvic acid, which through oxidation produces a large amount of phenylacetic acid, phenyllactic acid, and p-hydroxyphenylpyruvic acid. These metabolic by-products are excreted in large quantities in the urine, and the high concentrations of phenylalanine and its by-products accumulate extensively in brain tissue, thereby causing damage to brain cells.

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Written by Zeng Hai Jiang
Pediatrics
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Can phenylketonuria eat corn?

People with phenylketonuria can eat corn. Phenylketonuria is a hereditary metabolic disease that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and switch to a low-phenylalanine diet. When the concentration of phenylalanine in the blood drops to an ideal level, natural foods can be gradually reintroduced in small amounts, but the diet must still adhere to low-protein and low-phenylalanine standards. Corn mainly consists of starch and does not contain phenylalanine, so individuals with phenylketonuria can eat corn.