Clara -
A doctor missed my daughters diagnosis because she took a midday urine
sample.
The right way to go about this - a FASTING sample of blood and have it properly
stabilized - also test methionine. There are only certain labs that do this
test so
your lab will have to PROPERLY prepare and freeze the sample and send it to Mayo
Clinic or some other regional lab to have it tested - the results take two
weeks.
Normal HCU is 3-10 or something - Kelly's has been as high as l50 but I am told
severe
cases can be in the 600s. Whenever Kelly has her blood tested, we do a diet
diary-
weigh and measure EVERYTHING she eats or drinks for 3 days before her blood is
pulled.
Even the lab that normally does Kelly's work messes up sometimes and we get a
bad
#. The urine test is VERY unreliable!!! The OMIM site thru the NIH website
is the
most comprehensive piece of research/info I have seen anywhere - (5 years of
dealing
with this). I have several HCU buddies on the net and I'm sure we can help you
anytime - God bless you and your son- if this is the problem - you will need a
lot of
support- we're here for you- don't re-invent the wheel and don't feel alone.
TWaters

Clara Stone wrote:

> Therese
> Hi, can you help me with some info on homocystinuria. Is the Homocystine
level
> high in urine and blood or just one of these? I have heard they diagnose by it
> being in the urine but all the info I fine they talk about it being in the
blood,
> I am very confused. What is a high homocystine level? I know normal is suppose
to
> be around 3-6 I think. My son has several symptoms of it but because of the
blood
> workup they are not sure what is going on. Any info you can send me would be
> helpful.
>
> Thanks
> Clara
>
> Therese Waters wrote:
>
> > Teresa-
> > My daughter has homocystinuria and she definitely has an odd odor to her
> > urine. It is hard to describe but very distinctive. Although she is being
> > treated and her levels are better, we still note the odor, especially in the
> > morning, when presumably her urine is more concentrated. There are other
> > metabolic and endocrine disorders that have characteristic urine odors -
good
> > idea to check it out. TWaters
> >
> > TESSABUG@... 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
> > >
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