Patient's question:
There is no illness, just want to consult about phenylketonuria.Doctor's answer:
Phenylketonuria is a hereditary disease that causes an abnormality in phenylalanine metabolism due to a lack or reduced activity of phenylalanine hydroxylase in the liver. It is relatively common among genetic amino acid metabolic defects.The inheritance pattern of this disease is autosomal recessive. The main clinical features include intellectual disability, psychiatric and neurological symptoms, eczema, skin scratch marks, depigmentation, and a mouse-like odor, as well as abnormal electroencephalogram (EEG) findings.