Phenylketonuria is an autosomal recessive genetic disease is also congenital amino acid metabolism disorders, incidence is one out of 10,000 in China, health in children with a mother birth incidence is 25% again, significantly increased incidence of consanguineous marriage.
Children with phenylalanine hydroxylase deficiency, ate the normal transformation of phenylalanine, but becomes-hydroxyphenylpyruvic acid, discharged from the urine and sweat, abnormal odor, so become phenylketonuria. The excessive accumulation of phenylalanine in the body, can make the skin, hair white. When severe, phenylalanine accumulation in the brain, mental retardation, and facial expressions in children with dementia, seizures, and so on.
Now has a new prenatal diagnosis of phenylketonuria, as expensive is not widely popular, therefore do not see the 100% of prenatal diagnosis, so early detection is very important. Of the birth of children with phenylketonuria, and ordinary kids makes no difference, just to 3-4 months, symptoms only. For the disease, treatment is early detection, early diagnosis, early treatment, early control.
