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Galactosemia
Inability of conversion of galactose to glucose results in the accumulation of galactose in the blood - known as galactosemia. The biochemical defect usually found in galactosemia is the deficiency of the enzyme galactose-1-phosphate uridyl transferuse. Initially, galactose accumulates in the tissues, then in the blood. The major organ damaged by galactose accumulation is liver. Galactose is reduced to the corresponding alcohol called galactitol in the eye which causes cataract.
CHORIONI C VILLUS SAMPLING (CVS) - CVS is done during 8th-10th week of pregnancy when abortion is safe. For CVS cells are sucked into a catheter passed through the cervix.
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It is a newer agent that inhibits cholesterol absorption by the enterocyte. It reduces cholesterol absorption by the enterocyte. It reduces cholesterol absorption by 23 per cent-50
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