Galactosemia screening: Difference between revisions
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==[[Screening]]== | ==[[Screening]]== | ||
{{CMG}} {{AE}} {{Sujaya}} | {{CMG}} {{AE}} {{Sujaya}} | ||
[[Galactosemia]] despite being incurable, qualifies for [[screening]] as early detection can prevent complications.<ref name="pmid30038819">{{cite journal| author=Kotb MA, Mansour L, William Shaker Basanti C, El Garf W, Ali GIZ, Mostafa El Sorogy ST | display-authors=etal| title=Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt. | journal=J Adv Res | year= 2018 | volume= 12 | issue= | pages= 39-45 | pmid=30038819 | doi=10.1016/j.jare.2018.02.001 | pmc=6054589 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30038819 }} </ref> | [[Galactosemia]] despite being incurable, qualifies for [[screening]] as early detection can prevent complications.<ref name="pmid30038819">{{cite journal| author=Kotb MA, Mansour L, William Shaker Basanti C, El Garf W, Ali GIZ, Mostafa El Sorogy ST | display-authors=etal| title=Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt. | journal=J Adv Res | year= 2018 | volume= 12 | issue= | pages= 39-45 | pmid=30038819 | doi=10.1016/j.jare.2018.02.001 | pmc=6054589 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30038819 }} </ref> | ||
===Tests used to screen for [[galactosemia]]=== | ===Tests used to screen for [[galactosemia]]=== | ||
Revision as of 15:40, 2 July 2022
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia screening On the Web |
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American Roentgen Ray Society Images of Galactosemia screening |
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Risk calculators and risk factors for Galactosemia screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Overview
Now most of the infants are screened for galactosemia at birth in the US with a simple blood test with a heel prick. If suspected of having galactosemia, it is possible to diagnose unborn children with amniocentesis.
Screening
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[4]
Galactosemia despite being incurable, qualifies for screening as early detection can prevent complications.[1]
Tests used to screen for galactosemia
- RBC Galactose level : Total blood galactose measurement alone or in combination with GALT activity in a dried blood sample is used for primary screening. Galactose-1-phosphate more than 10mg% is highly suggestive of galactosemia. [2]
References
- ↑ Kotb MA, Mansour L, William Shaker Basanti C, El Garf W, Ali GIZ, Mostafa El Sorogy ST; et al. (2018). "Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt". J Adv Res. 12: 39–45. doi:10.1016/j.jare.2018.02.001. PMC 6054589. PMID 30038819.
- ↑ Adam BW, Flores SR, Hou Y, Allen TW, De Jesus VR (2015). "Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests". Clin Biochem. 48 (6): 437–42. doi:10.1016/j.clinbiochem.2014.12.009. PMC 4547523. PMID 25528144.