Question
What Are the Symptoms of Neonatal Phenylketonuria?
Answer
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency in phenylalanine hydroxylase (PAH), which prevents the normal metabolism of phenylalanine, leading to its accumulation in the body and affecting neurological development. The symptoms in newborns may be subtle but can include delayed intellectual development, neurological and psychiatric symptoms, eczema, skin scratches, pigment loss, and urine with a mouse-like odor. If screening is conducted immediately after birth and treatment begins, these symptoms can be prevented or their severity can be reduced.