Galactosemia

Galactosemia
Galactose
Specialty	Endocrinology

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,^[1] with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.^[2] Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie.^[3]

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)^[4] in the Irish Traveller population.^[5]