Guanidinoacetate methyltransferase deficiency
Posted on October 16, 2008 - Filed Under Uncategorized | Leave a Comment
GAMT gene mutations damage the ability of the guanidinoacetate methyltransferase enzyme to contribute in creatine synthesis.
Guanidinoacetate methyltransferase deficiency (GAMT) is a genetic disorder that first and foremost affects the nervous system and muscles. Guanidinoacetate methyltransferase deficiency creatine biosynthesis imperfection, leads to depletion of creatine and phosphocreatine, and accumulation of guanidinoacetate in brain. Creatine in the person body is derived from two sources: the diet and endogenous synthesis. These disorders generally show in the first few months of life, when development of new motor and cognitive skills becomes delayed or stops. Finally, affected children may drop previously acquired skills such as head manage or sitting unsupported.
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.
