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- Parents should be very alert to Phenylketonuria, beware of missing the real time of treatment!
PKU is caused by an enzyme defect in the phenylalanine metabolic pathway, pku guidelines resulting in the body's inability to metabolize phenylalanine from food. Children excrete large amounts of phenylketonate in their urine, producing the odor of a rat.
Most infants are born normal, and symptoms usually appear after three months.
If not treated promptly, it will be due to phenylalaninemia and phenylalanine metabolite toxicity. This results in clinical manifestations such as delayed mental development and abnormal behavior.
The incidence of PKU varies by ethnicity and region, with a prevalence of 1 in 11188 in China.
What are the early symptoms of early Phenylketonuria?
PKU in newborns has no specific clinical manifestations. Three months after birth, mental retardation and language impairment begin to appear and worsen with age.
Children have varying degrees of mental retardation, with 60% being severely low (IQ) light-colored, urinating, sweaty rats. Symptoms of neurological abnormalities are rare.
There may be small head deformities, motor coordination development difficulties. Abnormalities in mental life behavior are common in childhood, such as excitement, hyperactivity, withdrawn, and aggressive social behavior.
About one-third of children have dry skin, usually eczema, which may last for several years.
About one quarter of children have seizures, which can be infantile spasms or other forms of seizures, some of which may diminish with aging, or stop spontaneously.
Parents should be very alert when children are born normal and usually begin to show suspected symptoms and slow development within 3 to 6 months!
When typical symptoms appear clinically, it is too late to make a diagnosis, and the best time to treat brain damage has been missed.
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