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Keratosis pilaris results from the buildup of keratin â a hard protein that protects skin from harmful substances and infection. The keratin forms a scaly plug that blocks the opening of the hair follicle. Usually many plugs form, causing patches of rough, bumpy skin. No one knows exactly why keratin builds up. But it may occur in association with genetic diseases or with other skin conditions, such as atopic dermatitis.
By Mayo Clinic Staff. Phenylketonuria (fen-ul-ke-toe-NU-re-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that are high in protein.