Galactosemia primary prevention: Difference between revisions
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{{Galactosemia}} | {{Galactosemia}} | ||
{{CMG}} | {{CMG}} {{AE}} {{Sujaya}} | ||
==Overview== | ==Overview== | ||
Preventive strategies of [[galactosemia]] are primarily aimed at early [[detection]] through [[screening]] and prompt [[intervention]]. | |||
==Primary Prevention== | ==Primary Prevention== | ||
[[Galactosemia]] is an [[inherited]] [[autosomal]] [[recessive]] disorder of [[galactose]] [[metabolism]]. A single [[allele]] inherited from any one parent is not sufficient to cause the [[condition]]. [[Offspring]] born to parents who are both [[carriers]] run a 25% risk of contracting the [[disease]]<ref name="pmid13716617">{{cite journal| author=HUGH-JONES K, NEWCOMB AL, HSIA DY| title=The genetic mechanism of galactosaemia. | journal=Arch Dis Child | year= 1960 | volume= 35 | issue= | pages= 521-8 | pmid=13716617 | doi=10.1136/adc.35.184.521 | pmc=2012648 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13716617 }} </ref>. Due to the strong [[genetic]] basis of the disease, primary [[prevention]] is not widely adopted for [[galactosemia]]. However, [[consanguineous]] [[marriages]] have been shown to increase the risk of the disorder and should be avoided and prompt [[screening]] done for those with a [[positive]] [[family]] history or high risk<ref name="pmid23113108">{{cite journal| author=Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M| title=The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran. | journal=Iran J Public Health | year= 2011 | volume= 40 | issue= 4 | pages= 99-104 | pmid=23113108 | doi= | pmc=3481732 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23113108 }} </ref>. | |||
==References== | |||
{{Reflist|2}} | {{Reflist|2}} | ||
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[[Category: | [[Category:Endocrinology]] | ||
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Latest revision as of 11:45, 5 July 2022
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Galactosemia primary prevention On the Web |
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Risk calculators and risk factors for Galactosemia primary prevention |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
Preventive strategies of galactosemia are primarily aimed at early detection through screening and prompt intervention.
Primary Prevention
Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. A single allele inherited from any one parent is not sufficient to cause the condition. Offspring born to parents who are both carriers run a 25% risk of contracting the disease[1]. Due to the strong genetic basis of the disease, primary prevention is not widely adopted for galactosemia. However, consanguineous marriages have been shown to increase the risk of the disorder and should be avoided and prompt screening done for those with a positive family history or high risk[2].
References
- ↑ HUGH-JONES K, NEWCOMB AL, HSIA DY (1960). "The genetic mechanism of galactosaemia". Arch Dis Child. 35: 521–8. doi:10.1136/adc.35.184.521. PMC 2012648. PMID 13716617.
- ↑ 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.