Galactosemia epidemiology and demographics: Difference between revisions
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Revision as of 14:24, 26 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Overview
There seems to be an equal incidence of galactosemia in both females and males.
The incidence of galactosemia in Americans is 1 in 47,000 [1] The occurence of galactosemia seems to be rather lower in individuals of African and Asian descents.
The incidence of galactosemia in Irland is estimated at 1 in 30,000 but the incidence of galactosemia among Irish travellers is as high as 1 in 480 [2]
Epidemiology and Demographics
Galactosemia is a an inherited autosomal recessive disorder that occurs in approximately 1 in 30,000 births. The incidence of the Duarte variant of the classic form of galactosemia is estimated at 1 in 16,000 births. Galactosemia can occur in all ethnic groups, however some mutations of the genes can cause a less severe form of the disease and is more commonly seen in individuals of African and Asian descents.
References
- ↑ Suzuki M, West C, Beutler E (2001). "Large-scale molecular screening for galactosemia alleles in a pan-ethnic population". Hum Genet. 109 (2): 210–5. PMID 11511927.
- ↑ Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E; et al. (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.