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galactosemias
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The answer GALACTOSEMIAS has 0 possible clue(s) in existing crosswords.
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Definitions of galactosemias in various dictionaries:
noun - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent
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| Plural form of galactosemia. |
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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.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) within the Irish Traveller population. |