Phenylketonuria Clinical Symptoms

Written by Hu Qi Feng
Pediatrics
Updated on September 21, 2024
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Phenylketonuria may appear normal at birth, but symptoms usually start to appear between three to six months, with the symptoms becoming most evident at one year old. These are often manifestations of the nervous system, with prominent developmental delays in intelligence. The IQ is often lower than normal, and there may be abnormal behaviors, minor epileptic seizures, and, in a few children, increased muscle tone and hyperactive tendon reflexes. Due to insufficient melanin synthesis a few months after birth, affected children’s hair color changes from black to yellow, their skin is fair, and skin eczema is relatively common. Due to the elevated excretion of phenylacetic acid in urine and sweat, there is a distinct mouse-like urine smell.

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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 Zeng Hai Jiang
Pediatrics
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Can phenylketonuria be detected before a newborn is born?

Phenylketonuria can be screened prenatally before the birth of a newborn. The procedure involves genetic screening using amniotic fluid drawn through amniocentesis between the 16th and 20th week of pregnancy. Phenylketonuria is an autosomal recessive hereditary disease, greatly associated with chromosomal abnormalities. If chromosomal abnormalities are detected through amniocentesis, indicating the presence of pathogenic genes, it confirms that the fetus will be born with phenylketonuria. If both parents carry the relevant genes, prenatal screening is still necessary to rule out the risk of the disease in the fetus.

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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 patients with phenylketonuria eat fish and shrimp?

Children with phenylketonuria cannot eat fish and shrimp because phenylketonuria is caused by a deficiency of phenylalanine hydroxylase in the phenylalanine metabolic pathway, leading to metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first hereditary metabolic disease that can be controlled by diet, as natural foods contain certain amounts of phenylalanine. Therefore, once diagnosed, children with phenylketonuria should stop consuming a natural diet and should be treated with a low phenylalanine diet. Fish and shrimp contain rich protein and high levels of phenylalanine, hence children with phenylketonuria cannot eat fish and shrimp.

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Written by Zeng Hai Jiang
Pediatrics
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Does phenylketonuria require a lifetime of special milk consumption?

Phenylketonuria does not require a lifetime of special milk consumption. It is the first genetically inherited metabolic disorder that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and begin treatment with a low-phenylalanine diet. The low-phenylalanine milk formula should be consumed at least until the age of 12. When the concentration of phenylalanine in the blood is controlled within the ideal range, it is possible to appropriately add a small amount of natural diet, adhering to principles of low protein and low phenylalanine.