Can phenylketonuria cause convulsions?

Written by Zeng Hai Jiang
Pediatrics
Updated on June 07, 2025
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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 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 Yan Xin Liang
Pediatrics
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Clinical symptoms of phenylketonuria

The clinical symptoms of phenylketonuria generally include normal appearance at birth, with symptoms usually appearing between three to six months, and becoming more pronounced by the age of one. The most noticeable initial symptoms involve the nervous system; delayed intellectual development is prominent, with intelligence often below normal, along with behavioral abnormalities such as hyperactivity, depression, restlessness, and withdrawal. There could be minor epileptic seizures, and in some cases, increased muscle tone or exaggerated tendon reflexes. Regarding the skin, several months after birth, due to insufficient melanin synthesis, the child’s hair changes from black to yellow, the skin appears pale, and eczema is also relatively common. Additionally, the urine and sweat contain higher levels of phenylacetic acid, which can result in a distinctive mouse-like urine odor.

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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 Yan Xin Liang
Pediatrics
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Phenylketonuria positive means what?

Phenylketonuria is an autosomal recessive inherited disease and is the most common congenital amino acid metabolism disorder. Generally, if the activity of phenylalanine hydroxylase in the body is reduced, or if there is a deficiency in its coenzyme tetrahydrobiopterin, the concentration of phenylalanine in the blood and tissues will increase, and phenylpyruvic acid, phenylacetic acid, and phenyllactic acid in the urine will also increase. Generally, newborns may not show any special clinical features at first. Often, the first test results may be high due to maternal influence or dietary factors, which can cause these elevated indicators in newborns. If the second test is normal, there usually isn’t a significant problem. A third test can also be performed; if the third test still shows no issues, then phenylketonuria can be ruled out. Generally, if phenylketonuria is diagnosed, it should be treated promptly and properly.

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Written by Zeng Hai Jiang
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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.