Galactosemia Detailed Information

Posted on October 6, 2008 - Filed Under Health | Leave a Comment

Galactosemia is also very common in the Irish Traveller population. This is attributed to consanguinity within a relatively small gene pool.

Galactosemia is the lack of ability of the body to employ (metabolize) the simple sugar galactose, causing the buildup of galactose 1-phosphate in the body. It arises in about 1 out of every 60,000 births among Caucasians, while the rate is dissimilar for other groups. There are three forms of the disease include galactose-1 phosphate uridyl transferase lack (classic galactosemia, the most common and most severe form), deficiency of galactose kinase, and deficiency of galactose-6-phosphate epimerase. People with galactosemia are unable to completely break down the simple sugar galactose.

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