Does phenylketonuria cause liver dysfunction?

Written by Quan Xiang Mei
Pediatrics
Updated on January 27, 2025
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Phenylketonuria generally does not cause abnormalities in liver function. Phenylketonuria is a common amino acid metabolic disorder, mainly due to a deficiency of an enzyme in the phenylalanine metabolic pathway, preventing phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its keto acids, which are then excreted in large amounts in the urine. This disease is a relatively common genetic amino acid metabolic defect. Once diagnosed with phenylketonuria, the main treatment is a dietary therapy, which includes a low-phenylalanine diet. It is important during the upbringing of children to ensure that the child's living environment is quiet and comfortable. Therefore, in terms of prevention of the disease, it is important to avoid consanguineous marriage, conduct newborn screening, and focus on early detection and early treatment.

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Written by Yan Xin Liang
Pediatrics
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The earliest manifestation of phenylketonuria

Children with phenylketonuria usually start showing symptoms within 3 to 6 months after birth: Firstly, the nervous system is affected, which can be seen in developmental delays in intelligence, often with IQs lower than normal. Symptoms may include restlessness, depression, hyperactivity, or minor epileptic seizures. A few may exhibit increased muscle tone or heightened tendon reflexes. A few months after birth, due to insufficient melanin synthesis, the skin and hair undergo changes. Hair color may shift from black to yellow, the skin may appear very pale, and eczema is also more common. Additionally, because of the excretion of greater amounts of phenylacetic acids in urine and sweat, there may be a distinct mouse-like urine odor.

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Written by Yan Xin Liang
Pediatrics
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Is the incidence of phenylketonuria high?

Phenylketonuria is an autosomal recessive hereditary disease and is the most common congenital amino acid metabolic disorder. The main clinical manifestations include distinctive features such as intellectual disability, light skin and hair pigmentation, and a mouse-like urine odor, which is named after the large amounts of phenylketone acid metabolites excreted in the urine. The incidence of this disease varies by race and region, and the overall incidence in China is approximately 1:11,000, meaning one in eleven thousand. The incidence is higher in the northern population than in the southern population, though it is not particularly high.

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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.

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Written by Zeng Hai Jiang
Pediatrics
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Phenylketonuria will be fine when grown up, right?

Phenylketonuria is an autosomal recessive genetic disorder, a congenital amino acid metabolism disorder caused by mutations in the phenylalanine hydroxylase gene. This mutation leads to decreased enzyme activity, causing phenylalanine and its metabolic products to accumulate in the body, thereby causing the disease. If diagnosed and treated early, a child's intelligence can remain normal, and abnormalities in the electroencephalogram can be restored. If uncontrolled, typical symptoms will appear as the child grows, including delayed growth and development, primarily manifested as delayed intellectual development, as well as seizures, light brown hair, and other symptoms.

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Written by Wu Ben Rong
Pediatrics
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Is phenylketonuria related to jaundice?

Phenylketonuria (PKU) and jaundice are unrelated, as the causes of these two conditions are fundamentally different, constituting two completely distinct types of diseases. Phenylketonuria is usually caused by a metabolic abnormality, primarily due to abnormal metabolism of phenylalanine in the body, and it is usually a genetic disease. Jaundice, on the other hand, is primarily caused by an abnormal metabolism of bilirubin. Although both diseases occur frequently in infants and young children, there is no essential correlation between the two diseases. It is recommended that regardless of the disease, parents should give adequate attention, promptly take their children to a reputable hospital for relevant examinations, and seek timely treatment.