How to use Pah in a sentence
This family contains the paired amphipathic helix (PAH) repeat.
Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).
This is the only role of PAH in the body.
Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine.
The PAH gene and its PKU mutations are found on chromosome 12 in the human genome.Advertisement
In more detail, PKU mutations can involve many different types of changes, such as deletions and insertions, in the DNA of the gene that codes for the PAH enzyme.
The normal PAH gene is dominant to recessive PKU mutations.
A carrier does not display any symptoms of the disease because the carrier's liver produces normal quantities of the PAH enzyme.
Subsequent diagnostic procedures (called mutation analysis and genotype determination) can actually identify the specific types of PAH gene mutations inherited by PKU infants.