Can phenylketonuria be treated?

Written by Yan Xin Liang
Pediatrics
Updated on September 04, 2024
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Can phenylketonuria be treated? Yes, it can be treated, and treatment should begin immediately once diagnosed. The younger the age at which treatment begins, the better the prognosis. Infants are generally treated with low-phenylalanine formula milk. Once the blood phenylalanine concentration drops to an ideal level, natural foods can gradually be added in small amounts, with a preference for adding breast milk, since it contains only one-third the phenylalanine content of cow's milk.

Older infants and children can add foods like milk, porridge, noodles, and eggs. Added foods should follow the principle of being low in protein and phenylalanine. The amount and frequency of these foods should be determined based on the blood phenylalanine concentration. Concentrations that are too high or too low can affect the growth and development of the child. As each child's tolerance to phenylalanine concentration differs, it is necessary to regularly measure the blood phenylalanine concentration during dietary treatment and adjust the diet according to the specific situation of the child, avoiding increased phenylalanine levels or deficiency.

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Written by Tong Peng
Pediatrics
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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.

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Written by Yan Xin Liang
Pediatrics
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Phenylketonuria is a disease.

Phenylketonuria is an autosomal recessive genetic disorder resulting from mutations in the phenylalanine hydroxylase gene, leading to reduced enzyme activity and the accumulation of phenylalanine and its metabolic products in the body, thereby causing this disease. Phenylketonuria is the most common congenital amino acid metabolic disorder, clinically characterized by intellectual developmental delays, light skin and hair pigmentation, and a mouse-like urine odor. The incidence of the disease varies by race and region, with an incidence rate in China of about 1 in 11,000. Phenylalanine is an essential amino acid for the human body, but due to reduced activity of phenylalanine hydroxylase, phenylalanine cannot be converted into tyrosine, leading to extremely high concentrations of phenylalanine in the blood, cerebrospinal fluid, and tissues. Abnormal metabolism produces a large amount of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid, along with high concentrations of phenylalanine and its metabolic products, causing brain damage and corresponding symptoms.

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Written by Wang Lin Zhong
Pediatrics
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Early symptoms of phenylketonuria

Phenylketonuria is a hereditary metabolic disease caused by a deficiency or low activity of phenylalanine hydroxylase. Its main clinical manifestations include very obvious developmental delays in children and significantly lower IQ than their peers, severely affecting the child's growth and development. Due to the lack of this enzyme, the increase of abnormal metabolic products affects brain function, leading to symptoms such as seizures, convulsions, increased muscle tone, as well as hyperactivity and restlessness in children. The skin becomes particularly dry, prone to eczema, appears pale, and the hair turns yellow. The urine has a distinct mouse-like odor. Once diagnosed, early treatment is essential to reduce the sequelae of brain damage. The earlier the treatment, the better the prognosis. For these children, a special formula is needed, which is low in phenylalanine.

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Written by Zeng Hai Jiang
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Do adults with phenylketonuria need to eat special food?

Phenylketonuria may not necessarily require a special diet in adulthood. It is the first genetic metabolic disorder that can be treated through dietary control. Natural foods all contain a certain amount of phenylalanine, so once children with phenylketonuria are diagnosed, they should stop their natural diet and instead be given a low-phenylalanine diet. Low-phenylalanine formula treatment should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, a gradual addition of natural foods can be made. Larger infants and children can add foods such as milk, porridge, noodles, and eggs. However, these added foods should still primarily be low in protein and low in phenylalanine.

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Written by Yan Xin Liang
Pediatrics
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Does phenylketonuria affect intelligence?

Phenylketonuria is a common amino acid metabolic disease, primarily caused by a deficiency of phenylalanine hydroxylase in the metabolic pathway of phenylalanine, preventing phenylalanine from converting into tyrosine. This leads to the accumulation of phenylalanine and its ketones in the body, which are then excreted in large amounts through urine. Its clinical manifestations are not uniform. The main clinical characteristic is intellectual disability, thus it does affect intelligence. Additionally, it can present various neuropsychiatric symptoms such as increased muscle tone, hyperreflexia, agitation, hyperactivity, convulsions, etc. It can also lead to reduced skin pigmentation and yellowing of hair among other symptoms. This disease can impact intelligence.