Patient's question:
Recently I've noticed that the baby is not in a very good mental state, often distracted, and has very little hair. I suspect he might have phenylketonuria. Hello, what are the typical symptoms of phenylketonuria?Doctor's answer:
Generally, children with phenylketonuria are born normal, but symptoms begin to reappear between 3-6 months of age. Especially by the age of 1, the symptoms become prominent, primarily characterized by neurological developmental delays in intelligence and abnormal motor skills, along with hyperactivity or severe muscle pain, petit mal epilepsy. In very rare cases, there may be increased muscle tone and hyperreflexia.Children with BH4-deficient PKU exhibit earlier and more severe neurological symptoms. Common symptoms include hypotonia, anorexia, and convulsions, with significant intellectual delays. Children with noticeable symptoms may develop hypopigmentation of hair, skin, and iris after several months of birth due to insufficient melanin production. Nausea and skin eczema are also very common.