Phenylalaninemia (medical condition): A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
The list of signs and symptoms mentioned in various sources for Phenylketonuria includes the 55 symptoms listed below:
The list of treatments mentioned in various sources for Phenylketonuria includes the following list. Always seek professional medical advice about any treatment or change in treatment plans.
The special diet for PKU calls for careful monitoring. Because the body doesn\'t make phenylalanine, overzealous dietary restriction can induce phenylalanine deficiency, producing lethargy, anorexia, anemia, rashes, and diarrhea.