What are the hazards of neonatal phenylacetic copper urine disease

What are the hazards of neonatal phenylacetic copper urine disease

Neonatal phenylacetylcopperuria is a disease that damages the nervous system of newborns. It has a great impact on the newborns in the future. It affects their brain development and causes certain obstructions to the motor and visual nerves. It can be detected through electroencephalogram examination after the newborn is born. So what are the dangers of neonatal phenylacetic copper urine disease?

The main harm of PKU is damage to the nervous system. Untreated infants are normal at birth, but may develop vomiting, restlessness, irritability and varying degrees of developmental delay within a few months after birth. They begin to have obvious intellectual developmental delay 4-9 months after birth, especially language development disorders. Nearly half of them have epileptic seizures, of which about 1/3 suffer from infantile spasms, which often appear before 18 months of age.

About 80% have EEG abnormalities, which may manifest as high-peak rhythm disorders, focal spikes, etc. The form of epileptic seizures may change with age. The vast majority of children have mental and behavioral abnormalities such as depression, hyperactivity, and autistic tendencies. If not treated promptly and reasonably, it will eventually cause moderate to extremely severe mental retardation.

Abnormal signs of the nervous system are rare, but may include microcephaly, increased muscle tone, abnormal gait, hyperreflexia, fine tremors in the hands, repetitive limb movements, etc. Due to the lack of melanin, children often have yellow hair and light skin and irises. The phenylalanine accumulated in the blood is converted into phenylpyruvate and phenylacetic acid through bypass metabolism and excreted in large quantities in the urine. Therefore, the urine of children with the disease often has an unpleasant rat urine odor. At the same time, children are prone to eczema, vomiting, diarrhea, etc.

Do you know what are the dangers of neonatal phenylacetic copper urine disease? Dear parents, you have paid enough attention to this. Children's ability to express themselves is relatively fragile. In order to give your children a healthy body, you should adopt certain observation methods to see whether all aspects of the child's condition are normal. If any abnormality is found, seek treatment promptly.

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