Galactosemia epidemiology and demographics: Difference between revisions

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{{Galactosemia}}
{{Galactosemia}}
{{CMG}}; {{AE}} {{DD}}
{{CMG}}; {{AE}} {{Sujaya}}


==Overview==
==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 <ref name="pmid11511927">{{cite journal| author=Suzuki M, West C, Beutler E| title=Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. | journal=Hum Genet | year= 2001 | volume= 109 | issue= 2 | pages= 210-5 | pmid=11511927 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927  }} </ref> 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 <ref name="pmid10439960">{{cite journal| author=Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E et al.| title=Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. | journal=Eur J Hum Genet | year= 1999 | volume= 7 | issue= 5 | pages= 549-54 | pmid=10439960 | doi=10.1038/sj.ejhg.5200327 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10439960  }} </ref>


==Epidemiology and Demographics==
==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==
==References==
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[[Category:Endocrinology]]

Revision as of 22:38, 27 June 2022