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| Home • About Galactosaemia |
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CLASSICAL GALACTOSAEMIA ?
Galactosaemia literally means 'galactose in the blood'. Galactose is a sugar which mainly comes from lactose, the sugar found in milks. • more information • |
MILESTONES
European and international Milestones • more information • |
| SCREENING FOR GALACTOSAEMIA
The screening for Galactosaemia in different Countries in Europe. • more information • |
METABOLISM
Galactosaemia is an elevation of blood galactose levels. • more information • |
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| HORMONES
It is well known that about 80% of the girls suffer from a subnormal function of the ovaries. • more information • |
ENDOGENOUS GALACTOSE
Long-term disturbances emerge even when the patients are on an extremely galactose restricted diet . • more information • |
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| DUARTE VARIANT
Sometimes, newborns are picked up in newborn screening with a high level of galactose-1-phosphate and an enzyme activity about 25% of normal. These children do not have Galactosaemia. They have what is called the "Duarte Variant". • more information • |
GALACTOKINASE DEFICIENCY
Galactokinase deficiency is a rare autosomal recessive inborn error of galactose metabolism. • more information • |
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Last updated:
10.03.2007
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