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Thursday, February 27, 2014
My Discussion with the Galactosemia Foundation
I recently emailed a representative of the Galactosemia Foundation in order to acquire more information on galactosemia. I recieved a response from Scott Shepard the next day with very detailed information on the specific genes involved in galactosemia. As I mentioned in the post titled Genetics, there are three types of galactosemia. Type 1, the most common, can include what is known as "classic" galactosemia, as well as several other "variant" forms of galactosemia. Shepard also informed me that the most common allele mutation for this disorder is called Q188R. Galactosemics with this mutation have a homozygous Q188R/Q188R gene. My discussion with Shepard was very informative, and I highly recommend that you email the Galactosemia Foundation with any questions of your own here.
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