How to determine if phenylketonuria is mild

Written by Zeng Hai Jiang
Pediatrics
Updated on April 17, 2025
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Phenylketonuria severity is generally determined by clinical manifestations and blood phenylalanine concentration. Mild phenylketonuria is characterized by mild or asymptomatic intelligence, motor, and developmental delays, light hair and skin color, and a musty odor in urine and sweat. It includes clinical features such as seizures accompanied by abnormal mental and behavioral symptoms, with blood phenylalanine levels less than 120 to 360 micromoles per liter. This is primarily seen in a very small number of newborns or premature infants, or in cases where there is higher residual activity of phenylalanine hydroxylase enzyme.

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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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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria is what type of inheritance?

Phenylketonuria is an autosomal recessive genetic disorder and is the most common congenital amino acid metabolism disorder. The main clinical features include intellectual disability, pale skin and hair pigmentation, and a mouse-like urine smell. This condition is named after the high levels of phenylketonic acid metabolites excreted in the urine of affected patients. Phenylketonuria is an autosomal recessive genetic disease, and its primary pathological mechanism is due to the lack of phenylalanine hydroxylase, which fails to convert phenylalanine into tyrosine, leading to increased concentrations of phenylalanine in the blood, cerebrospinal fluid, and various tissues. Because the main metabolic pathway is blocked, secondary metabolic pathways are enhanced, leading to the deamination of phenylalanine and the production of large amounts of phenylketonic acid. Through oxidation, this produces byproducts such as phenylacetic acid, phenyllactic acid, and para-hydroxyphenylketonic acid, thereby resulting in a series of clinical symptoms.

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Written by Yan Xin Liang
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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 Zeng Hai Jiang
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How to determine if phenylketonuria is mild

Phenylketonuria severity is generally determined by clinical manifestations and blood phenylalanine concentration. Mild phenylketonuria is characterized by mild or asymptomatic intelligence, motor, and developmental delays, light hair and skin color, and a musty odor in urine and sweat. It includes clinical features such as seizures accompanied by abnormal mental and behavioral symptoms, with blood phenylalanine levels less than 120 to 360 micromoles per liter. This is primarily seen in a very small number of newborns or premature infants, or in cases where there is higher residual activity of phenylalanine hydroxylase enzyme.

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Written by Zeng Hai Jiang
Pediatrics
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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.