Galactosemia primary prevention: Difference between revisions
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==Overview== | ==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]]<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 adopted for [[galactosemia]]. | |||
==References== | ==References== | ||
Revision as of 11:37, 5 July 2022
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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
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 adopted for galactosemia.
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.