Clinical Case Presentation # 5. Building Blocks of Life Phenylketonuria. There will be a test at the end of this presentation!. 24 year old female Weighs 55 kg. Chief Complaint (CC) Here for a check-up. Has some cold sensitivity on lower left molar History of Chief Complaint (HCC)
Building Blocks of Life Phenylketonuria
Drinks vodka and grapefruit juice 5 x/wk
PKU can be caused by an intron mutation that leads to aberrant splicing. (A) Normal primary transcript and mRNA. (B) Mutation of G to A in intron 12 results in the skipping of exon 12. Most mutations causing PKU occur in coding regions.