Patient's question:
I went to the hospital for a thorough examination a few weeks ago and was diagnosed with phenylketonuria. It is said that this disease is hereditary. I would like to ask about the generational inheritance pattern of phenylketonuria. Will it be inherited by my son in the third generation? If it is inherited in the third generation, how can it be alleviated, and is it treatable?Doctor's answer:
Phenylketonuria (PKU) is inherited in an autosomal recessive manner, meaning it is a metabolic disorder affecting amino acid breakdown and can be passed down to your son. It is difficult to self-recover from PKU, and the current treatment primarily focuses on dietary management. The earlier the treatment begins, the better the outcome. Low-phenylalanine formula feeding can be considered, and when introducing complementary foods during early childhood, a diet based on low-protein foods such as starches, vegetables, and fruits is recommended. The treatment period may last for about twenty years. If both parents have PKU, DNA testing or screening of amniotic fluid for tryptophan should be conducted during pregnancy.