See also Phenylalanine hydroxylase deficiency; Phenylketonuria (PKU); Maternal phenylketonuria.
- Phenylalanine hydroxylase deficiency
Classic phenylketonuria (PKU) Variant PKU Non-PKU hyperphenylalaninemia (non-PKU HPA) In non-PKU HPA, there is elevation of phenylalanine (phe) in the blood but not enough to qualify as PKU or variant PKU. Non-PKU HPA is associated with the least risk of intellectual damage. Variant PKU is intermediate between PKU and non-PKU HPA. The decision as to […]
The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase. Newborns are screened for phenylketonuria (PKU) by a blood test, usually with the Guthrie card bloodspot obtained from a heelprick. Treatment is with a special diet low in phenylalanine. The goal is to […]
- Phenylketonuria, maternal
See Maternal phenylketonuria.
Procedure in which the blood is filtered, separated, and a portion retained, with the remainder being returned to the individual. There are various types of pheresis. In leukapheresis, the leukocytes (white blood cells) are removed. In plateletpheresis, the thrombocytes (blood platelets) are removed. And in plasmapheresis, the liquid part of the blood (the plasma) is […]
An agent secreted by an individual that produces a change in the sexual or social behavior of another individual of the same species; a volatile hormone that acts as a behavior-altering agent.