What are the symptoms of phenylketonuria?

Patient's question:

I heard it's a hereditary disease, but my husband and I, as well as our three generations of family members, don't have this disease. I don't know if we will get it, and I'm very worried. Also, can a one-and-a-half-month-old baby be observed externally? He is very active now. Patient age: 45 days

Doctor's answer:

Growth and development retardation, in addition to physical growth and development retardation, mainly manifests as intellectual development retardation. It is characterized by an IQ lower than that of normal infants of the same age, which can appear as early as 4 to 9 months after birth. In severe cases, the IQ is below 50, and language development disorders are particularly prominent. These manifestations suggest brain development disorders. Neurological and psychiatric manifestations include cerebellar malformations due to brain atrophy, recurrent seizures that gradually decrease with age, increased muscle tone, and hyperreflexia. There is often restlessness, hyperactivity, and abnormal behavior.

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