Early symptoms of phenylketonuria

Written by Wang Lin Zhong
Pediatrics
Updated on November 12, 2024
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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 Yan Xin Liang
Pediatrics
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The earliest manifestation of phenylketonuria

Children with phenylketonuria usually start showing symptoms within 3 to 6 months after birth: Firstly, the nervous system is affected, which can be seen in developmental delays in intelligence, often with IQs lower than normal. Symptoms may include restlessness, depression, hyperactivity, or minor epileptic seizures. A few may exhibit increased muscle tone or heightened tendon reflexes. A few months after birth, due to insufficient melanin synthesis, the skin and hair undergo changes. Hair color may shift from black to yellow, the skin may appear very pale, and eczema is also more common. Additionally, because of the excretion of greater amounts of phenylacetic acids in urine and sweat, there may be a distinct mouse-like urine odor.

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How is phenylketonuria diagnosed?

How is phenylketonuria diagnosed? Firstly, we start with screening, which is usually done when the newborn is 3 to 7 days old by heel prick to collect peripheral blood, which is then dropped onto specialized filter paper for the determination of phenylalanine concentration. If the concentration of phenylalanine is above the cutoff value, further determination of phenylalanine concentration is conducted. The normal concentration is less than 120 umol/L. If the concentration of phenylalanine is greater than 1200 umol/L, it suggests severe phenylketonuria. Moderate levels are above 360 umol/L, and mild levels are above 120 umol/L but less than 360 umol/L. Furthermore, diagnosis can be confirmed through DNA analysis, currently available tests include screening for mutations in the phenylalanine hydroxylase gene.

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Can phenylketonuria be treated?

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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Phenylketonuria smells like mouse urine.

Phenylketonuria is a common amino acid metabolic disorder primarily caused by a deficiency of phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to the accumulation of phenylalanine and ketone bodies, which are then excreted in large amounts in the urine. This disease is relatively common among genetic amino acid metabolic disorders and is inherited as an autosomal recessive trait. Additionally, due to the lack of phenylalanine hydroxylase, phenylalanine is metabolized through another pathway, resulting in increased production of phenyllactic acid and phenylacetic acid, which are excreted through sweat and urine, giving off a mouse-like urine odor.

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Does phenylketonuria require a lifetime of special milk consumption?

Phenylketonuria does not require a lifetime of special milk consumption. It is the first genetically inherited metabolic disorder that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and begin treatment with a low-phenylalanine diet. The low-phenylalanine milk formula should be consumed at least until the age of 12. When the concentration of phenylalanine in the blood is controlled within the ideal range, it is possible to appropriately add a small amount of natural diet, adhering to principles of low protein and low phenylalanine.