Symptoms Of PKU Patient

Symptoms of phenylketonuria (PKU) usually develop within a few months after birth, after phenylalanine has built up in a baby's system from consuming the protein in formula or breast milk. Before birth, the mother's body filters out the excess phenylalanine for the baby (fetus).

A musty odor to the skin, hair, and urine.

Vomiting and diarrhea, leading to weight loss.

Irritability.

Skin problems, such as dry skin, or itchy skin rashes (eczema).

Sensitivity to light (photosensitivity).

Unusual behavior, such as screaming episodes, repetitive rocking, head banging, and arm biting (common in older children).

Loss of skills and abilities related to severe intellectual disability.

Growth and developmental delays.