"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
Pediatrics
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What is the normal value for phenylketonuria?

Phenylketonuria is a common autosomal recessive genetic disorder and the most common congenital amino acid metabolism disorder. It primarily manifests as intellectual disability, light skin and hair pigmentation, and a mousey urine odor. Newborn screening includes routine screening for phenylketonuria as it is a treatable hereditary metabolic disorder, emphasizing the importance of early diagnosis and treatment. Nowadays, newborn screening systems are widely implemented. Generally, this involves collecting a blood sample through a heel prick, dropping the blood on specialized filter paper, and then air drying before sending it to a screening laboratory to measure the phenylalanine concentration. Typically, a normal concentration should be less than 120 micromoles per liter. If the phenylalanine concentration exceeds 1200 micromoles per liter, it can be diagnosed as classical phenylketonuria.

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Written by Hu Qi Feng
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Mechanism of phenylketonuria

Phenylketonuria is characterized by reduced activity of phenylalanine hydroxylase, which fails to convert phenylalanine to tyrosine, causing extremely elevated levels of phenylalanine in the blood, cerebrospinal fluid, and tissues. This leads to the production of large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid via alternative pathways. High concentrations of phenylalanine and its metabolic products can cause brain damage, which manifests as developmental intellectual disabilities, changes in skin and hair pigmentation, and a mousy urine odor, all part of a clinical syndrome.

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Can phenylketonuria eat corn?

People with phenylketonuria can eat corn. Phenylketonuria is a hereditary metabolic disease that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and switch to a low-phenylalanine diet. When the concentration of phenylalanine in the blood drops to an ideal level, natural foods can be gradually reintroduced in small amounts, but the diet must still adhere to low-protein and low-phenylalanine standards. Corn mainly consists of starch and does not contain phenylalanine, so individuals with phenylketonuria can eat corn.

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Can phenylketonuria cause hair to turn white?

Phenylketonuria is caused by a mutation in the phenylalanine hydroxylase gene, resulting in reduced or lost enzyme activity, and a metabolic disorder of phenylalanine in the liver. Children with phenylketonuria lack phenylalanine hydroxylase, leading to reduced tyrosine and normal metabolic products. The content of phenylalanine in the blood increases, secondary metabolic pathways are enhanced, producing phenylpyruvic acid, phenylacetic acid, and phenyllactic acid, which are excreted in large amounts in the urine. High concentrations of phenylalanine and its abnormal metabolic products inhibit tyrosinase, leading to disturbances in melanin synthesis. Therefore, untreated children will gradually show changes in hair color from black to yellow and skin lightening after three months.