Question
A worried parent inquired whether they could still develop phenylketonuria even if there is no history of the disease in the family. Additionally, they wanted to know if it is possible to observe any signs of the disease in a one-month-old baby, especially when the baby appears very lively.
Answer
Phenylketonuria is a genetic disorder that can occur even if there is no apparent family history. The main symptoms include delayed intellectual development, particularly appearing between 4 to 9 months after birth, with an IQ that may be lower than that of normal infants of the same age, and significant language development disorders. In addition, patients may experience cerebellar malformations due to brain atrophy, recurrent seizures, and as they grow older, increased muscle tone and hyperreflexia, among other neurological and psychiatric manifestations. For a one-month-old baby…