Definitions for galactosemiagəˌlæk təˈsi mi ə
This page provides all possible meanings and translations of the word galactosemia
a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
A genetic metabolic disorder characterized by an inability to metabolize galactose properly
Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar, lactose, metabolizes to galactose, galactosemia is not related to and should not be confused with lactose intolerance. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. 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 60,000 births for Caucasians. In other populations the incidence rate differs. Galactosemia is ten times more common within the Irish Traveller population.
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"galactosemia." Definitions.net. STANDS4 LLC, 2015. Web. 1 Aug. 2015. <http://www.definitions.net/definition/galactosemia>.