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 normalize the levels of phenylalanine and tyrosine in the blood to prevent brain damage. Failure of treatment results in profound irreversible mental retardation, microcephaly (an abnormally small head), epilepsy, and behavior problems. It is clear that if the diet is not followed closely, especially during childhood, some impairment is inevitable. Maternal phenylketonuria requires a diet low in phenylalanine.
Phenylketonuria is inherited in an autosomal recessive manner, as are lesser degrees of phenylalanine hydroxylase deficiency. Phenylketonuria is abbreviated and commonly referred to as PKU.
- 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.
- Philadelphia chromosome (Ph)
BCR-ABL on the Ph chromosome and ABL-BCR on the chromosome 9 participating in the translocation. The BCR-ABL gene encodes a protein with deregulated (uncontrolled) tyrosine kinase activity. The presence of this protein in the CML cells is strong evidence of its pathogenetic (disease-causing) role. The efficacy in CML of a drug that inhibits the BCR-ABL […]
- Philippine hemorrhagic fever
A syndrome due to the dengue virus that tends to affect children under 10, causing abdominal pain, hemorrhage (bleeding) and circulatory collapse (shock). Known also as dengue hemorrhagic fever (DHF), it starts abruptly with high continuous fever and headache plus respiratory and intestinal symptoms with sore throat, cough, nausea, vomiting, and abdominal pain. Shock occurs […]