Pah sentence example
- This family contains the paired amphipathic helix (PAH) repeat.
- Back to top Mike again... Guest Posted: Fri May 06, 2005 10:28 am Post subject: yeah they probably would...rozzers pah!
- Pah a+ g B Gulf of Siam 104 D C A NLB'O = D I A sÃ‚° A tooÃ‚° hang Kut 1.141 Kon Pt.
- Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).
- PKU is caused by the liver's inability to produce a particular type of PAH enzyme.Advertisement
- This is the only role of PAH in the body.
- A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain.
- PKU symptoms are caused by alterations or mutations in the genetic code for the PAH enzyme.
- 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.