Patient's question:
A friend's child was diagnosed with phenylketonuria at birth. Treatment also requires a long period of time, and it may also affect the child's growth and development in the future. I want to know what causes phenylketonuria?Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder in which phenylalanine (PA) cannot be converted to tyrosine due to enzyme defects in its metabolic pathway, leading to the accumulation of phenylalanine and its ketone bodies, as well as excessive urinary excretion. This disease is often associated with hereditary amino acid metabolic defects, which are inherited in an autosomal recessive manner. The main clinical features include intellectual disability, mental and neurological symptoms, eczema, skin scratch marks, depigmentation, and a rat-like odor, as well as abnormal electroencephalograms. If diagnosed and treated early, these clinical manifestations may not occur.