Can phenylketonuria be cured?

Written by Yan Xin Liang
Pediatrics
Updated on September 19, 2024
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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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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 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
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The causes of phenylketonuria

Phenylketonuria is a common autosomal recessive genetic disorder, the most frequent primary clinical manifestation among congenital amino acid metabolic disorders. It is characterized by intellectual disability, pale skin and hair pigmentation, and a mouse urine-like odor. The main cause is that phenylalanine is an essential amino acid for the human body. The phenylalanine ingested is partly used for protein synthesis and partly converted to tyrosine by the action of phenylalanine hydroxylase, which is necessary for the synthesis of substances like adrenaline, melanin, and thyroxine. The disease is mainly due to a deficiency of phenylalanine hydroxylase, which inhibits the conversion of phenylalanine to tyrosine, resulting in increased concentrations of phenylalanine in the blood, cerebrospinal fluid, and various tissues. At the same time, due to the predominance of the main pathway, the enhancement of the secondary metabolic pathway leads to the deamination of phenylalanine by transaminase, producing a large amount of phenylpyruvic acid, which through oxidation produces a large amount of phenylacetic acid, phenyllactic acid, and p-hydroxyphenylpyruvic acid. These metabolic by-products are excreted in large quantities in the urine, and the high concentrations of phenylalanine and its by-products accumulate extensively in brain tissue, thereby causing damage to brain cells.

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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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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.