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Conference moira::parenting

Title:Parenting
Notice:Previous PARENTING version at MOIRA::PARENTING_V3
Moderator:GEMEVN::FAIMANY
Created:Thu Apr 09 1992
Last Modified:Fri Jun 06 1997
Last Successful Update:Fri Jun 06 1997
Number of topics:1292
Total number of notes:34837

850.0. "PKU testing" by GRANPA::COMPTONT () Wed Nov 09 1994 10:35

    I would like information on the PKU test.  What is it, when
    is it done and what does it determine?  
    
    Any help will be appreciated!
    Thanks,
    Tracy
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850.1STAR::LEWISWed Nov 09 1994 11:026
    PKU is a disorder where certain proteins aren't broken down correctly.
    I think that in their semi-broken down state they are somewhat toxic
    and can cause retardation. It's easily avoidable if you avoid those
    proteins. It's typically done within a few days of birth. 
    Sue
    
850.2PKUSAPPHO::DUBOISTrust in God, but tie your camelWed Nov 09 1994 11:568
That's basically what I remember from my psych classes, too.  They tested
my kids right after birth.  Because of the retardation a person can get if
they have this, then you will see signs on a lot of foods (like soft drinks)
which say:
		PHENYLKETONURICS:  CONTAINS
                              PHENYLALANINE

    Carol
850.3Anemia?GRANPA::COMPTONTWed Nov 09 1994 12:249
    Well maybe I'm confused or maybe my friend is confused, but she 
    said it has something to do with anemia.  Her daughter is 6 months
    old and was tested for PKU.  They are doing more testing (blood)
    because of the results of the PKU.  She is not worried and didn't
    mention retardation at all.
    
    I thought she said PKU but maybe I'm wrong.  Does this sound like
    something different?                       
    
850.4CSC32::M_EVANSperforated porciniWed Nov 09 1994 12:465
    could it be the complete newborn screen, of which the pku test is a
    part?  I know Colorado checks for PKU, maple sugar urine syndrome and a
    host of other things in thheir screening test.
    
    meg
850.5MOIRA::FAIMANlight upon the figured leafWed Nov 09 1994 12:4719
>    I thought she said PKU but maybe I'm wrong.  Does this sound like
>    something different?                       

It sounds like something different. 

PKU is phenylketoneuria.  It's a metabolic disorder (either inherited, or caused
by a random mutation), which involves an inability to properly metabolize the
amino acide phenylalanine.  As a result, phenylalanine (or one of its
by-products) builds up in the body, where it causes brain damage, among other
problems.  The result tends to be fairly profound mental retardation, which
occurs quite early.

Fortunately, it's easily diagnosed, and if a child with PKU is put on a
phenylalanine-free diet from birth, they will have no problems.  (As Carol
mentioned, the synthetic sweetener aspartame is a combination of phenylalanine
and another amino acid, so it's right out for phenylketonurics.)  Thus, newborns
are always tested for PKU these days.

	-Neil