Galactosemia epidemiology and demographics: Difference between revisions
Jump to navigation
Jump to search
| Line 8: | Line 8: | ||
{{CMG}} {{AE}} {{Sujaya}} | {{CMG}} {{AE}} {{Sujaya}} | ||
===Epidemiology=== | ===Epidemiology=== | ||
* Classic galactosemia affects approximately 1/50,000 live births in the USA <ref name="pmid24718839">{{cite journal| author=Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL| title=Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. | journal=JIMD Rep | year= 2015 | volume= 15 | issue= | pages= 79-93 | pmid=24718839 | doi=10.1007/8904_2014_302 | pmc=4413015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24718839 }} </ref>. It is around 1 in 47000 among the White Americans <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=10.1007/s004390100552 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927 }} </ref>.1% of the North American people are carriers | * Classic galactosemia affects approximately 1/50,000 live births in the USA. <ref name="pmid24718839">{{cite journal| author=Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL| title=Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. | journal=JIMD Rep | year= 2015 | volume= 15 | issue= | pages= 79-93 | pmid=24718839 | doi=10.1007/8904_2014_302 | pmc=4413015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24718839 }} </ref>. It is around 1 in 47000 among the White Americans. <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=10.1007/s004390100552 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927 }} </ref>.1% of the North American people are carriers. <ref name="pmid10604151">{{cite journal| author=Ruiz M, Jover S, Armas M, Duque MR, Santana C, Girós ML | display-authors=etal| title=Galactosaemia presenting as congenital pseudoafibrinogenaemia. | journal=J Inherit Metab Dis | year= 1999 | volume= 22 | issue= 8 | pages= 943-4 | pmid=10604151 | doi=10.1023/a:1005660011709 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10604151 }} </ref> | ||
* Incidence in UK is 1 in 70000, in Ireland 1 in 23000 <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=10.1007/s004390100552 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927 }} </ref> | * Incidence in UK is 1 in 70000, in Ireland 1 in 23000. <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=10.1007/s004390100552 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927 }} </ref> | ||
* Incidence in the traveller community is notably high as 1 in 480 <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=10.1007/s004390100552 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927 }} </ref> | * Incidence in the traveller community is notably high as 1 in 480. <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=10.1007/s004390100552 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11511927 }} </ref> | ||
* In western Europe the percentage of galactosemia ranges from 1: 23000 to 1: 44000 <ref name="pmid12705493">{{cite journal| author=Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA| title=Clinical features of galactokinase deficiency: a review of the literature. | journal=J Inherit Metab Dis | year= 2002 | volume= 25 | issue= 8 | pages= 629-34 | pmid=12705493 | doi=10.1023/a:1022875629436 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12705493 }} </ref> | * In western Europe the percentage of galactosemia ranges from 1: 23000 to 1: 44000. <ref name="pmid12705493">{{cite journal| author=Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA| title=Clinical features of galactokinase deficiency: a review of the literature. | journal=J Inherit Metab Dis | year= 2002 | volume= 25 | issue= 8 | pages= 629-34 | pmid=12705493 | doi=10.1023/a:1022875629436 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12705493 }} </ref> | ||
===Demographics=== | ===Demographics=== | ||
* The incidence seems to be rather lower among people of African and Asian descent. | * The incidence seems to be rather lower among people of African and Asian descent. | ||
==References== | ==References== | ||
Revision as of 21:25, 29 June 2022
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia epidemiology and demographics On the Web |
|
American Roentgen Ray Society Images of Galactosemia epidemiology and demographics |
|
Risk calculators and risk factors for Galactosemia epidemiology and demographics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
Epidemiology and Demographics
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[4]
Epidemiology
- Classic galactosemia affects approximately 1/50,000 live births in the USA. [1]. It is around 1 in 47000 among the White Americans. [2].1% of the North American people are carriers. [3]
- Incidence in UK is 1 in 70000, in Ireland 1 in 23000. [2]
- Incidence in the traveller community is notably high as 1 in 480. [2]
- In western Europe the percentage of galactosemia ranges from 1: 23000 to 1: 44000. [4]
Demographics
- The incidence seems to be rather lower among people of African and Asian descent.
References
- ↑ Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL (2015). "Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead". JIMD Rep. 15: 79–93. doi:10.1007/8904_2014_302. PMC 4413015. PMID 24718839.
- ↑ 2.0 2.1 2.2 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. doi:10.1007/s004390100552. PMID 11511927.
- ↑ Ruiz M, Jover S, Armas M, Duque MR, Santana C, Girós ML; et al. (1999). "Galactosaemia presenting as congenital pseudoafibrinogenaemia". J Inherit Metab Dis. 22 (8): 943–4. doi:10.1023/a:1005660011709. PMID 10604151.
- ↑ Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA (2002). "Clinical features of galactokinase deficiency: a review of the literature". J Inherit Metab Dis. 25 (8): 629–34. doi:10.1023/a:1022875629436. PMID 12705493.