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Besides short stature, what are the clinical manifestations of phenylketonuria?

Besides short stature, what are the clinical manifestations of phenylketonuria?

Sometimes, parents may tell their children that they are growing slowly and are lethargic, pku guidelines have poor appetite, vomiting, diarrhea, seizures, poor reflexes, inactivity, and moldy urine.

Bring your child to the doctor. After screening, the child was found to have phenylketonuria. This is the most common genetic metabolic disorder in children.

Phenylketonuria is a common amino acid metabolic disorder, the incidence of which varies by country and region. The incidence of this disease in China is 1 in 16,500.

Typically, phenylketonuria is caused by a deficiency of polycyclic aromatic hydrocarbons in the liver and the body's inability to convert l- phenylalanine to tyrosine, resulting in an accumulation of l- phenylalanine and an increase in urinary by-products such as phenylpyruvate, phenyl lactate, and phenylpropionic acid.

Phenyl pyruvate, phenyl lactate, phenylacetic acid, and other excretion products are increased, resulting in increased blood l-phenylalanine, urine l-phenylalanine, and phenyl pyruvate.

The disease is an autosomal recessive genetic disorder with a 25% recurrence rate. The genetic engineering of phenylalanine hydroxylase is located on the long arm of our human chromosome 12, and mutations in the gene can cause this disease.

These children are basically normal except for being short at birth. If they are not treated, they will gradually develop skin and hair color changes from 1-2 months after birth, with white hair and yellow face.

After 4-6 months of mental retardation and motor retardation, more than 90% of children have moderate to severe mental retardation, and about 1/4 of children have various seizures with a strong mouse urine or moldy smell.

It is caused by abnormal metabolic products such as phenylacetic acid excreted in the urine and sweat. Most patients do not live to be 30 years old.