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SymptomsAn infant with classic PKU may appear normal for the first few months of his or her life. If the child is not treated for PKU during this time, he or she will begin to develop symptoms-lighter skin, hair, and eye color than their family members-Delayed mental and social skills-Head size much smaller than normal-Hyperactivity-Jerking movements of the arms or legs-Mental disability-Seizures-Skin rashes-TremorsIf PKU is untreated, or if foods containing phenylalanine are eaten, the breath, skin, ear wax, and urine may have a "mousy" or "musty" odor. This odor is due to a buildup of phenylalanine substances in the body.
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