Can people with phenylketonuria eat meat?

Written by Zeng Hai Jiang
Pediatrics
Updated on February 01, 2025
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Children with phenylketonuria should not eat meat and should try to eat as little as possible. Phenylketonuria is caused by a defect in the phenylalanine hydroxylase enzyme in the phenylalanine metabolic pathway, which results in a metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first hereditary metabolic disease that can be treated by dietary control. All natural foods contain a certain amount of phenylalanine. Once diagnosed, children should stop consuming a natural diet and be given a low-phenylalanine diet for treatment. Meat is rich in protein and also contains a high amount of phenylalanine, thus the intake of meat must be restricted or minimized.

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Written by Yan Xin Liang
Pediatrics
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What is the probability of phenylketonuria?

Phenylketonuria is an autosomal recessive genetic disorder primarily caused by mutations in the phenylalanine hydroxylase gene, leading to reduced enzyme activity and the accumulation of phenylalanine and its metabolites in the body, resulting in the disease. Phenylketonuria is the most common congenital amino acid metabolism disorder, with clinical manifestations mainly including intellectual developmental delays, light skin and hair pigmentation, and a mouse urine odor. The incidence of the disease varies by race and region. In China, the incidence of phenylketonuria is approximately 1 in 11,000, meaning that about one in 11,000 children suffers from phenylketonuria.

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Written by Zeng Hai Jiang
Pediatrics
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Can people with phenylketonuria not eat things high in protein?

Phenylketonuria patients should avoid foods high in protein, as phenylketonuria is a common amino acid metabolism disorder caused by a deficiency of phenylalanine hydroxylase in the metabolic pathway of phenylalanine, leading to disordered metabolism of phenylalanine in the liver. Phenylketonuria is a hereditary metabolic disease that can be managed through diet. Natural foods contain certain amounts of phenylalanine. Once diagnosed, the patient should cease consuming natural diets and switch to a phenylalanine-restricted diet. Foods rich in protein have higher amounts of phenylalanine, thus, those with phenylketonuria should not consume foods high in protein.

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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
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Can phenylketonuria cause convulsions?

Phenylketonuria can cause seizures. It is a common amino acid metabolic disorder, an autosomal recessive genetic disease caused by mutations in the phenylalanine hydroxylase gene. This leads to reduced or lost enzyme activity, causing the accumulation of phenylalanine and its metabolic products in the body, which leads to the disease. The incidence rate in China is about 1/16,500, with certain racial and regional differences. Clinically, it is characterized by delayed growth and intellectual development, seizures, hyperreflexia, eczema, etc.

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Written by Yan Xin Liang
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Do children with mild phenylketonuria need treatment?

Phenylketonuria is a common amino acid metabolic disease, primarily due to the deficiency of phenylalanine hydroxylase, preventing phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its keto acids in the body, which are then excreted in large amounts in the urine. It is a relatively common genetic amino acid metabolic disorder and is inherited as an autosomal recessive trait. Even in cases of mild symptoms, treatment is still required. The main treatment is a low-phenylalanine diet, which involves dietary control, as phenylalanine is an essential amino acid for protein synthesis. Special phenylalanine-formula milk powder is fed to infants, and at this stage, it is appropriate to add some complementary foods such as starchy vegetables and fruits, focusing on low-protein foods. The goal of dietary treatment is to maintain an appropriate concentration of phenylalanine in the blood.