What are the diagnostic criteria for phenylketonuria in children?

Phenylketonuria is an inherited metabolic disorder mainly caused by a deficiency of the enzyme phenylalanine hydrogenase in the liver. Generally speaking, if ch...

Mar 30,2022 | Frances

Phenylketonuria is an inherited metabolic disorder mainly caused by a deficiency of the enzyme phenylalanine hydrogenase in the liver. Generally speaking, if children suffer from this disease, they will be mentally retarded, their skin will turn white, their hair will turn yellow, their limbs will be shortened, and the patient will have a musty smell, so they should be treated in time after suffering from this disease.

Phenylketonuria is a disease of amino acid metabolism, most children can be diagnosed after birth, mainly because of the lack of corresponding enzymes in amino acid metabolism of phenylketonuria, but many parents do not know how to diagnose phenylketonuria, which is also the reason for many parents More concerned, what are the diagnostic criteria for phenylketonuria in children?

1. Generally speaking, after the child is born, the hospital will collect the peripheral blood of the heel for testing, mainly through the Guthrie bacterial growth inhibition test. If the test result is positive, it means that the concentration of phenylamino acids in the body is high, and phenylketonuria may be present;

2. Older children can do urine ferric chloride test, mainly urine test. Normally, ferric chloride is instilled in children's urine. If the urine turns green, the test result is positive and the concentration of phenylalanine in the child's urine is high;

3. Can detect phenylalanine amino acid in blood. The normal blood phenylalanine amino acid range is 60-180mol/L. If a child has phenylketonuria, the value will be well above the normal range, even more than 10 times the normal value. At present, this detection method is widely used what is pku;

4. Determine whether the child's family has phenylketonuria. If there is a patient with this disease in the family, then the child may also have this disease;

This disease is preventable, and consanguineous marriage is generally prohibited. This disease is mainly because the child's parents suffer from chromosomal diseases. If the child suffers from phenylketonuria, go to the hospital for treatment in time. Generally, genetic diseases are difficult to treat, but Children can be relieved through professional treatment, which can effectively improve children's treatment and improve children's living standards. Usually, they also have good living habits and go to the hospital for regular check-ups.