How long does it take for phenylketonuria to manifest?

Written by Zeng Hai Jiang
Pediatrics
Updated on February 18, 2025
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Phenylketonuria is a common amino acid metabolic disease. Most infants appear normal at birth and do not show any specific clinical symptoms during the neonatal period, although some newborns may experience symptoms such as feeding difficulties, vomiting, or irritability. Symptoms of phenylketonuria gradually appear in the first three months after birth, including changes such as hair turning from black to yellow, skin whitening, delayed growth and intellectual development, seizures, hyperactive reflexes, eczema, etc. The sweat and urine of affected children will have a mouse-like odor.

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Written by Yan Xin Liang
Pediatrics
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Is phenylketonuria characterized only by pale facial skin?

Phenylketonuria is a common amino acid metabolic disorder. It is primarily due to the deficiency of phenylalanine hydroxylase, which prevents the conversion of phenylalanine to tyrosine, leading to a series of clinical symptoms. These can manifest as intellectual disability, neuropsychiatric symptoms, eczema, skin scratching, pigment loss, and a musty odor. The skin whiteness mentioned is not merely facial pallor; it affects the entire skin because the benefits of tyrosine are reduced, leading to decreased melanin synthesis. Consequently, the hair of affected children can also be lighter and tend to be brown.

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Written by Zeng Hai Jiang
Pediatrics
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How long does it take for phenylketonuria to manifest?

Phenylketonuria is a common amino acid metabolic disease. Most infants appear normal at birth and do not show any specific clinical symptoms during the neonatal period, although some newborns may experience symptoms such as feeding difficulties, vomiting, or irritability. Symptoms of phenylketonuria gradually appear in the first three months after birth, including changes such as hair turning from black to yellow, skin whitening, delayed growth and intellectual development, seizures, hyperactive reflexes, eczema, etc. The sweat and urine of affected children will have a mouse-like odor.

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Written by Hu Qi Feng
Pediatrics
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Phenylketonuria inheritance mode

Phenylketonuria is an autosomal recessive genetic disorder, caused by a mutation in the phenylalanine hydroxylase gene leading to reduced enzyme activity. This results in the accumulation of phenylalanine and its metabolic products in the body, causing the disease. It is the most common congenital amino acid metabolism disorder and is clinically characterized by delayed intellectual development, changes in skin and hair pigmentation, and a mousy urine odor. The incidence of this disease in China is approximately 1 in 11,000, and it is inherited in an autosomal recessive manner.

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Written by Yan Xin Liang
Pediatrics
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What can be eaten with phenylketonuria?

Phenylketonuria is primarily due to a deficiency of phenylalanine hydroxylase in the body, which prevents the conversion of phenylalanine to tyrosine. Due to the blockage of the metabolic pathway, secondary metabolic pathways are enhanced, leading to the deamination of phenylalanine and the production of large amounts of phenylpyruvic acid. Through oxidation, by-products such as phenylacetic acid, phenyllactic acid, and para-hydroxyphenylpyruvic acid are formed. The treatment mainly involves the use of low-phenylalanine formula milk. When the concentration in the blood reaches the desired level, natural foods can be gradually added in small amounts. Breast milk is the preferred choice as it contains only one-third of the phenylalanine content of cow's milk. For older infants and children, cow's milk, porridge, noodles, and eggs can be added. The principle for introducing foods should be based on low protein and low phenylalanine content, adjusted according to the phenylalanine concentration in the blood. Both too high and too low levels of phenylalanine can affect growth and development.

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Written by Yan Xin Liang
Pediatrics
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How is phenylketonuria cured?

Phenylketonuria is an autosomal recessive genetic disease, primarily due to a mutation in the phenylalanine hydroxylase gene which leads to reduced enzymatic activity, causing the accumulation of phenylalanine and its metabolites in the body, thereby leading to this disease. The main manifestations include developmental intellectual disabilities, light skin and hair pigmentation, and a musty urine odor. Once diagnosed, immediate treatment is necessary, mainly using a low-phenylalanine formula milk. Generally, when orally administering low-phenylalanine formula milk, it is essential to monitor the phenylalanine levels in the blood. Since each patient has a different tolerance level for phenylalanine, periodic determination of blood phenylalanine concentration is required in the dietary treatment. Such patients can only be treated long-term in this way; it is not curable nor can it be completely eradicated; treatment can only alleviate the symptoms and involves long-term administration of a low-phenylalanine diet.