Patient's question:
My best friend's first child has been diagnosed with phenylketonuria, and they are already undergoing treatment under the guidance of the hospital. Due to the relaxation of the two-child policy, my best friends want a second child, but they are worried that the second child might also get this disease. So, they want to consult first about whether phenylketonuria is hereditary.Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency in enzymes of the phenylalanine degradation pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. The clinical presentation is heterogeneous, with the main diagnostic features including intellectual disability, neurological manifestations, eczema, skin scratching signs, depigmentation, and a mouse-like odor, as well as abnormal electroencephalogram (EEG) findings. If early diagnosis and early treatment are achieved, the aforementioned clinical manifestations can be prevented from recurring, allowing for normal intelligence and complete recovery of abnormal EEG findings.