Question: Phenylketonuria, or PKU, is an inherited autosomal recessive disorder that is caused by mutations…
Show transcribed image text Phenylketonuria, or PKU, is an inherited autosomal recessive disorder that is caused by mutations in the PAH gene. PAH codes for enzyme phenylalanine hydroxylase, which hydroxylates phenylalanine and converts it to tyrosine. Phenylalanine and tyrosine are amino acids. PAH mutations inhibit the conversion of phenylalanine to tyrosine, and this results in high levels of phenylalanine. PAH mutations cause symptoms such as intellectual disability, behavior problems, and seizures. Genetic disorders such as PKU are managed by treatment plans and counseling offered by genetic counselors. Select the treatment plan that helps patients with PKU manage the symptoms of the disorder.
Phenylketonuria, or PKU, is an inherited autosomal recessive disorder that is caused by mutations in the PAH gene. PAH codes for enzyme phenylalanine hydroxylase, which hydroxylates phenylalanine and converts it to tyrosine. Phenylalanine and tyrosine are amino acids. PAH mutations inhibit the conversion of phenylalanine to tyrosine, and this results in high levels of phenylalanine. PAH mutations cause symptoms such as intellectual disability, behavior problems, and seizures. Genetic disorders such as PKU are managed by treatment plans and counseling offered by genetic counselors. Select the treatment plan that helps patients with PKU manage the symptoms of the disorder.
