| 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]
- ^ Goppert F. (1917). "Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden". Klinische Wochenschrift. 54: 473–7.
- ^ Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM (1956). "Congenital Galactosemia, a single enzymatic block in galactose metabolism". Science. 123 (3198): 635–6. Bibcode:1956Sci...123..635I. doi:10.1126/science.123.3198.635. PMID 13311516.
- ^ "History of Galactosemia". Galactosemia Foundation. Archived from the original on 2021-04-25. Retrieved 2020-11-05.
- ^ "Classical Galactosaemia - Ireland's Health Service". www.hse.ie.
- ^ Murphy M, McHugh B, Tighe O, et al. (July 1999). "Genetic basis of transferase-deficient Galactosaemia in Ireland and the population history of the Irish Travellers". Eur. J. Hum. Genet. 7 (5): 549–54. doi:10.1038/sj.ejhg.5200327. PMID 10439960.