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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If phenylketonuria is not treated, what will happen?

Phenylketonuria (PKU) is an amino acid metabolic disorder primarily caused by a deficiency in phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to a significant accumulation of phenylalanine, which is then excreted in large quantities in the urine. It is a common genetic metabolic disorder. If not treated, it can lead to developmental delays in children, particularly in intellectual development, with markedly lower IQ than peers, especially noticeable in language development disorders. Additionally, it can also present with neurological and psychiatric symptoms such as agitation, hyperactivity, increased muscle tone, and hyperreflexia. There is also depigmentation of the skin and hair, and the urine may have a mousy odor.

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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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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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Pediatrics
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Phenylketonuria Test Methods

The examination methods for phenylketonuria primarily include newborn screenings usually performed three to seven days after birth by drawing a blood sample from the heel and placing drops on specialized blood collection filter paper. Once dried, the sample is sent to a screening laboratory to determine the concentration of phenylalanine. If the phenylalanine concentration exceeds the cutoff value, further examinations and confirmatory tests are necessary, with the confirmatory test involving the measurement of phenylalanine concentration. Another method involves the analysis of urinary pterin profile, mainly used to differentiate dihydrobiopterin reductase deficiency. Additionally, gene analysis can be applied to detect mutations in genes such as phenylalanine hydroxylase, aiding in genetic diagnoses and prenatal diagnoses.

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Written by Tong Peng
Pediatrics
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Does phenylketonuria easily cause a cold?

Phenylketonuria does not easily cause a cold, as a cold is a type of infectious disease mainly caused by various pathogen infections and stimuli, leading to symptoms such as cough, fever, and runny nose. Phenylketonuria is a common amino acid metabolism disorder caused by a deficiency of the enzyme required for phenylalanine to convert into tyrosine, resulting in excessive excretion of phenylalanine in urine. This disease is a recessive hereditary disorder, which can lead to intellectual disability, neuropsychiatric symptoms, and pigment loss. Due to the lack of melanin, affected children often present with yellow hair, pale skin and sclera, and their urine has a mousy odor. They may also suffer from eczema, vomiting, and diarrhea. Phenylketonuria is one of the few treatable hereditary metabolic diseases, so it generally does not cause symptoms of a cold.