Galactosemia

Common card · No. 412545

Galactosemia (British galactosaemia, from Ancient Greek γάλακτος (galaktos) 'milk' and αίμα (haima) '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. Galactosemia is about one hundred times more common (1:480 births) in the Irish Traveller population.

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