Can phenylketonuria be detected before a newborn is born?

Written by Zeng Hai Jiang
Pediatrics
Updated on December 14, 2024
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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 Yan Xin Liang
Pediatrics
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Can phenylketonuria be cured?

Once phenylketonuria is diagnosed, immediate treatment is necessary; the younger the age at which treatment is started, the better the prognosis. The main approach is to use a low phenylalanine formula milk for treatment. Once the blood phenylalanine concentration has decreased to the desired level, we can gradually begin adding small amounts of natural diet. For small infants, breast milk is preferred since it contains much less phenylalanine than cow's milk. For older infants, additions such as cow's milk, porridge, noodles, and eggs are acceptable, but supplements should still follow the principle of being low in protein and phenylalanine. The amount and frequency of these additions should be determined based on the phenylalanine concentration, as too high or too low levels can affect growth and development. This condition can only be managed by controlling symptoms and maintaining blood phenylalanine levels. Long-term treatment is required; it cannot be cured, only controlled.

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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria smells like mouse urine.

Phenylketonuria is a common amino acid metabolic disorder primarily caused by a deficiency of phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to the accumulation of phenylalanine and ketone bodies, which are then excreted in large amounts in the urine. This disease is relatively common among genetic amino acid metabolic disorders and is inherited as an autosomal recessive trait. Additionally, due to the lack of phenylalanine hydroxylase, phenylalanine is metabolized through another pathway, resulting in increased production of phenyllactic acid and phenylacetic acid, which are excreted through sweat and urine, giving off a mouse-like urine odor.

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Written by Hu Qi Feng
Pediatrics
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The pathogenesis of phenylketonuria

Phenylketonuria is an amino acid metabolic disease caused by a deficiency of phenylalanine hydroxylase. Phenylalanine is an essential amino acid for the human body, and it is partially converted into tyrosine by phenylalanine hydroxylase. Due to the reduced activity of phenylalanine hydroxylase, phenylalanine cannot be transformed into tyrosine. This leads to extremely high concentrations of phenylalanine in the blood, cerebrospinal fluid, and tissues. Through alternative metabolic pathways, large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and others are produced. High concentrations of phenylalanine and its metabolic products can cause brain damage.

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Written by Yan Xin Liang
Pediatrics
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How is phenylketonuria diagnosed?

How is phenylketonuria diagnosed? Firstly, we start with screening, which is usually done when the newborn is 3 to 7 days old by heel prick to collect peripheral blood, which is then dropped onto specialized filter paper for the determination of phenylalanine concentration. If the concentration of phenylalanine is above the cutoff value, further determination of phenylalanine concentration is conducted. The normal concentration is less than 120 umol/L. If the concentration of phenylalanine is greater than 1200 umol/L, it suggests severe phenylketonuria. Moderate levels are above 360 umol/L, and mild levels are above 120 umol/L but less than 360 umol/L. Furthermore, diagnosis can be confirmed through DNA analysis, currently available tests include screening for mutations in the phenylalanine hydroxylase gene.

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Written by Hu Qi Feng
Pediatrics
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Phenylketonuria lacks what enzyme?

Phenylketonuria is an autosomal recessive genetic disorder caused by a mutation in the phenylalanine hydroxylase gene, which leads to reduced enzyme activity and the accumulation of phenylalanine and its metabolites in the body, resulting in disease. Phenylketonuria is the most common congenital disorder of amino acid metabolism, clinically characterized by developmental delays in intelligence, light pigmentation of the skin and hair, and a mousey odor to the urine. It is often due to a deficiency of phenylalanine hydroxylase.