Galactosemia epidemiology and demographics: Difference between revisions
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===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. <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> | * 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=== | ||
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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.[3]
- The disorder is apparently less prevalent among Asians. Galactosemia is seen in all races; however, its variants are classified genetically, being most notable among African – Americans.[5]
- Symptoms mostly develop in a few days to two weeks after initiating feedings in an apparently normal infant leading often to discharge prior to the onset of the illness.
- The other important clinical finding in these patients is cataract.[6]
- Cognitive impairment is present in the majority of patients.[7]
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.
- ↑ 3.0 3.1 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.
- ↑ Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M (2011). "The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran". Iran J Public Health. 40 (4): 99–104. PMC 3481732. PMID 23113108.
- ↑ Kaye CI, Committee on Genetics. Accurso F, La Franchi S, Lane PA, Hope N; et al. (2006). "Newborn screening fact sheets". Pediatrics. 118 (3): e934–63. doi:10.1542/peds.2006-1783. PMID 16950973.
- ↑ Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U (2010). "Longitudinal assessment of intellectual achievement in patients with classical galactosemia". Pediatrics. 125 (2): e374–81. doi:10.1542/peds.2008-3325. PMID 20100763.