Definitions for galactosemia
gəˌlæk təˈsi mi əgalac·tosemi·a

Princeton's WordNetRate this definition:0.0 / 0 votes

1. galactosemianoun

   a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

WiktionaryRate this definition:0.0 / 0 votes

1. galactosemianoun

   A genetic metabolic disorder characterized by an inability to metabolize galactose properly

WikipediaRate this definition:0.0 / 0 votes

1. Galactosemia

   Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German physician, 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. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie.Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosaemia is about one hundred times more common (1:480 births) in the Irish Traveller population.

WikidataRate this definition:0.0 / 0 votes

1. Galactosemia

   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.

Matched Categories

1. • Inborn Error Of Metabolism

How to pronounce galactosemia?

1. Alex

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Numerology

1. Chaldean Numerology

   The numerical value of galactosemia in Chaldean Numerology is: 9

2. Pythagorean Numerology

   The numerical value of galactosemia in Pythagorean Numerology is: 7

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References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=galactosemia
2. ^ Wiktionary
   https://en.wiktionary.org/wiki/Galactosemia
3. ^ Wikipedia
   https://en.wikipedia.org/wiki/Galactosemia
4. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=galactosemia