Galactosemia screening
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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.