Differentiating Galactosemia from other diseases: Difference between revisions
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! Diseases !! Clinical manifestations !! Para-clinical findings !! Gold standard !! Additional findings | ! Diseases !! Clinical manifestations !! Para-clinical findings !! Gold standard !! Additional findings | ||
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| [[Galactosemia]] || | | [[Galactosemia]] || Hepatomegaly, jaundice, vomiting, cataract, sepsis, psychomotor retardation <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> || Direct and indirect hyperbilirubinemia <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> || Measurement of GALT/GALK/Epimerase activity in erthrocytes <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> || | ||
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| [[Biliary]] [[atresia]] || Example || Example || Example || Example | | [[Biliary]] [[atresia]] || Example || Example || Example || Example | ||
Revision as of 21:32, 27 June 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
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Overview
Differentiating Galactosemia from other Diseases
Galactosemia needs to differentiated from other diseases like:
References
- ↑ Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M (2000). "Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method". Clin Chim Acta. 298 (1–2): 175–9. doi:10.1016/s0009-8981(00)00220-5. PMID 10876013.
- ↑ Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J (1997). "Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia". J Inherit Metab Dis. 20 (4): 607–8. doi:10.1023/a:1005375629820. PMID 9266402.
- ↑ Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E (2017). "False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency". JIMD Rep. 36: 1–5. doi:10.1007/8904_2016_34. PMC 5680284. PMID 28078493.
- ↑ 4.0 4.1 Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A; et al. (2013). "Literature review and outcome of classic galactosemia diagnosed in the neonatal period". Clin Lab. 59 (9–10): 1139–46. doi:10.7754/clin.lab.2013.121235. PMID 24273939.
- ↑ 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.
| Diseases | Clinical manifestations | Para-clinical findings | Gold standard | Additional findings |
|---|---|---|---|---|
| Galactosemia | Hepatomegaly, jaundice, vomiting, cataract, sepsis, psychomotor retardation [4] | Direct and indirect hyperbilirubinemia [4] | Measurement of GALT/GALK/Epimerase activity in erthrocytes [5] | |
| Biliary atresia | Example | Example | Example | Example |
| Fanconi Bickel syndrome | Example | Example | Example | Example |
| Glucose-6-phosphate dehydrogenase deficiency | Example | Example | Example | Example |