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Mon, 9 Nov 1998 10:53:36 EST |
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I found a website maintained by the parents of a child with galactosemia. It
includes a parents' discussion bulletin board and links. The best one: "The
National Center for Biotechnology Information maintains a resource
called OMIM (Online Mendelian Inheritance in Man).
<A HREF="http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?230400">OMIM
ENTRY 230400</A> covers
galactosemia in detail, including the clinical history of the disease, a
description of its variants, and a slew of references to read." This was
pretty technical and beyond my level of expertise.
Because my 8-year-old was diagnosed with galactosemia by infant-screening,
I'm particularly interested in this topic. As I recall, after further
testing, I was told she had "benign" galactosemia, meaning it shows in the
screening, but she did not have to avoid galactose. After reading the recent
post on "levels" of galactosemia (sorry--I deleted it, so that's a poor
description) and the OMIM webpage, I can't seem to find anything matching the
description I was given. Can anyone else explain this in "simple" language?
Chris Mayou
Oregon
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