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'm not sure if we will get it. 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 reflected in an IQ lower than that of normal infants of the same age. It can appear as early as 4 to 9 months after birth. In severe cases, the IQ is below 50. Language development disorders are particularly prominent. These manifestations suggest brain development disorders. Neurological and psychiatric manifestations. Due to brain atrophy, there is cerebellar malformation. Recurrent seizures. However, they tend to decrease with age. Increased muscle tone. Hyperreflexia. Often accompanied by restlessness, hyperactivity, and abnormal behavior.

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