Galactosemia

n. any of three genetic disorders characterized by defective galactose metabolism resulting in an accumulation of galactose in the bloodstream (Medicine)

Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly metabolize the sugar galactose.Goppert first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan and much more common in Italy, specifically the traveler region.
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Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to [more]Galactosemia - Community and Resources

Noun
1. a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
(hypernym) inborn error of metabolism

Inherited disorder due to defective metabolism (processing) of the sugar galactose. Galactosemia is one of the diseases in many newborn genetic screening panels. The disease (which can be fatal, if undetected) is treated by avoiding galactose in the diet.