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Which one of the following is not a clinical feature of phenylketonuria?

A. Sensorineural deafness
B. Infantile spasms
C. Microcephaly
D. A characteristic "mousy" odor
E. Light hair and skin pigmentation

1 Answer

3 votes

Final answer:

Sensorineural deafness is not a typical clinical feature of phenylketonuria; the other options listed are associated with PKU to varying degrees. (option a)

Step-by-step explanation:

The clinical feature that is not typically associated with phenylketonuria (PKU) is sensorineural deafness. Phenylketonuria is a result of a deficiency in the enzyme phenylalanine hydroxylase, which is critical for metabolizing the amino acid phenylalanine to tyrosine. When phenylalanine accumulates in the body, it can result in a number of clinical features, including a characteristic "mousy" odor due to the buildup of phenylalanine metabolic byproducts, light hair and skin pigmentation as tyrosine is also a precursor for melanin, microcephaly, and possibly infantile spasms. However, sensorineural deafness is not commonly listed as a feature of PKU.

Hence, the answer is option a

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