Phenylketonuria (PKU)
Good morning. It is July 8th and you are the on-call Pediatric
Intern covering the Neonatal Intensive Case Unit. You
have just received a page from the State Laboratory where
the neonatal screening is preformed. A baby delivered
three days ago had a positive "Guthrie" test.
This is a screening test for the detection of phenylketonuria
(PKU), an inborn error of metabolism.
Go to OMIM:
- Search the OMIM database for: Phenylketonuria (PKU)
- Look up clinical synopsis, text, genetic defect
and treatment of PKU gene.
Then return, and try to answer the following
questions:
What do you do with this information?
- Please describe PKU, its incidence, mechanism of
inheritance and treatment.
Answers
|
