1. PKU - Noun
2. PKU - Proper noun
a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
Source: WordNetA 1987 study from Slovakia reports a Roma population with an extremely high incidence of PKU (one case in 40 births) due to extensive inbreeding. citation It is the most common amino acid metabolic problem in the United Kingdom. Source: Internet
As an autosomal recessive disorder, two PKU alleles are required for an individual to exhibit symptoms of the disease. Source: Internet
Both PKU and most non-PKU hyperphenylalaninemia are the result of phenylalanine hydroxylase deficiency (PAHD). Source: Internet
For all these reasons, the prescription formula is an important part of the treatment for patients with classic PKU. Source: Internet
History Before the causes of PKU were understood, PKU caused severe disability in most people who inherited the relevant mutations. Source: Internet
However, if PKU is diagnosed early enough, an affected newborn can grow up with normal brain development by managing and controlling phenylalanine ("Phe") levels through diet, or a combination of diet and medication. Source: Internet