This responds to the note about the unusual odor in Teresa's daughter's
urine.

You say that your daughter has "clinical diagnosis" of Angelman syndrome.

Did she has a positive FISH (flourescence in situ hybridization) test for
the deletion at 15 q (found in 70 per cent of patients) or did she have
positive uniparental disomy studies (here the mother's #15 chromosome is
not found, and 2 copies of the father's #15 chromosome are detected; still
absence of maternal 15q). The reason for asking about positive testing, is
that a small percent of "clinical Angelman" patients have tetrahydrofolate
reductase deficiency; these children may have an unusual smell and positive
amino and organic acids in urine. And this small percent of patients may
benefit from high levels of administered folic acid.

Good luck.

pbenke

At 10:29 PM 06/04/2000 -0400, you wrote:
>This is going to sound weird but my daughter occasionally gets what I call a
>"saltine cracker" odor..............does anyone else have a child that gets
>this odd odor? She only has a clinical diagnosis of Angelman syndrome,
>nothing metabolic. But has in the past had a few weird levels of different
>acids. One of her peds recently reminded me of the acid levels and I
>mentioned the odor. Now she wants me to try to get a urine sample when she
>has this odor. She is potty trained so it should be fairly easy.
>I just have to wait for the mystery odor to return.
>
>Teresa
>
>------------------------------------------------------------------------
>Failed tests, classes skipped, forgotten locker combinations.
>Remember the good 'ol days
>http://click.egroups.com/1/4053/5/_/581489/_/960175105/
>------------------------------------------------------------------------
>
>IEM FAMILY FORUM
>-----
>Get Money for Reading Your E-mail
>http://clickpick.com/progcgi/adsA.cgi?banner=moneymail
> -----------------------
> Travel Savings Alert
> http://bestbuystravel.com
>--------------------------
> Find It Now
> http://clickpick.com/
>-------------------------
> My Weather
> http://clickpick.com/hw2/myweather.cgi
>----------------------------------------
> Stop Smoking
> http://just4u.com/forums/cgi/show.cgi?26/26.html
>
Paul J. Benke, M.D., Ph.D.
Box 016820, Mailman Ctr.
University of Miami Sch. Medicine
Miami, FL 33101