"Phenylketonuria weakly positive" means what?

Written by Zeng Hai Jiang
Pediatrics
Updated on December 16, 2024
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The indication of weakly positive phenylketonuria suggests a re-examination of blood phenylalanine levels. Generally, there are no obvious specialized clinical symptoms of phenylketonuria in the newborn period. Some newborns may experience feeding difficulties, vomiting, or irritability, and the manifestations of phenylketonuria gradually appear after three months of age. Currently, hospitals routinely screen newborns for phenylketonuria. This screening is conducted 72 hours after birth and must be completed by no later than 20 days post-birth. If the result of the blood phenylalanine test is weakly positive or positive, further testing is generally recommended to determine whether the infant has phenylketonuria or if other factors are affecting the phenylalanine levels.

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Written by Yan Xin Liang
Pediatrics
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How to diagnose phenylketonuria?

Phenylketonuria is a treatable hereditary metabolic disease, where our primary goal is early diagnosis and treatment. Currently, a universal newborn screening system has been widely implemented. The standard procedure requires that after three days of breastfeeding, peripheral blood is collected from the newborn's heel, dropped onto specialized blood collection filter paper, and, once dried, sent to a screening laboratory to measure the phenylalanine concentration. If the phenylalanine concentration exceeds the cutoff value, further differential diagnosis and confirmation are conducted. Treatment typically starts two to three weeks after birth, and the prognosis is good. Additionally, diagnostic tests for phenylketonuria include urine ferric chloride, 2,4-dinitrophenylhydrazine tests, urinary purine profile analysis, and tetrahydrobiopterin loading test. Another method is through DNA analysis.

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Written by Yan Xin Liang
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Phenylketonuria lacks what enzyme?

Phenylketonuria is an autosomal recessive genetic disorder primarily caused by mutations in the phenylalanine hydroxylase gene. This leads to reduced activity of phenylalanine hydroxylase, accumulation of phenylalanine and its metabolites in the body, and the onset of the disease. Phenylketonuria is the most common congenital amino acid metabolism disorder. Clinically, it is mainly characterized by intellectual developmental delays, light skin and hair pigmentation, and a mousey urine odor. The incidence of this disease varies by ethnicity and region. In China, the incidence is approximately 1 in 11,000.

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Written by Zeng Hai Jiang
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When do people with phenylketonuria need to eat a special diet until?

Phenylketonuria is the first genetic metabolic disease that can be treated through dietary control. Since natural foods contain certain amounts of phenylalanine, once children with phenylketonuria are diagnosed, they should stop consuming a natural diet and start a low-phenylalanine diet treatment. Treatment with a low-phenylalanine formula should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, gradually small amounts of natural diet can be reintroduced. The food added should adhere to the principles of being low in protein and phenylalanine.

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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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Does phenylketonuria have a distinctive facial appearance?

Phenylketonuria is characterized by a specific facial appearance, primarily presenting with pale skin and yellow hair. Some affected children may develop eczema due to a disruption in melanin synthesis, which results in a distinctive skin color. Additionally, there are neuropsychiatric abnormalities, such as intellectual disability, increased excitability, and heightened muscle tone. The urine of patients has a plastic-like smell, largely because phenylketonuria is a hereditary metabolic disease. Newborns exhibit hyperphenylalaninemia, but as harmful metabolites of phenylalanine are not present in high concentrations before feeding begins, initial conditions at birth are often normal. However, as diet is introduced and metabolite concentrations increase, specific clinical symptoms, including severe cases of epileptic seizures manifested as infantile spasms, nodding seizures, or other forms, become evident. Therefore, dietary management is essential in treatment.