(1) PKU types are autosomal recessive lowering genetic disease, pku treatment PHA gene pure or complex formation of heterozygous mutation analysis can only become pathogenic.
(2) Avoid consanguineous marriage. Family members can also be detected as heterozygous carriers for genetic counseling.
(3) Both parents of the predecessor are heterozygous carriers. The risk of heterozygous loci being passed on to subsequent generations is 50%, and the probability of passing on a mutated locus to both parents is 25%, while the probability of passing on a mutated locus to a single parent is 50%.
(4) Prenatal diagnosis
Mutation testing can be performed on couples with a family history of the disease and on prenatal patients to determine the type of mutation. Prenatal diagnosis is performed at 10-13 weeks of gestation or 16-22 weeks of gestation by taking chorionic villus or amniotic fluid cells for DNA analysis.
(5) Neonatal disease screening
To develop and popularize screening for neonatal diseases, early detection of children with PKU can be studied and treatment can be started as early as possible, which can prevent the occurrence of developmental mental retardation.
Genetic diagnosis is the most definitive method and should be performed routinely. Patients can be found to be pure or complex heterozygotes for the pah and tetrahydrogenic Candida genes, and the parents are carriers of the disease-causing gene.