Galactosemia laboratory findings: Difference between revisions
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===Indirect evidence=== | ===Indirect evidence=== | ||
* Active/recurrent [[sepsis]], usually by [[E.coli]]<ref name="pmid21321007">{{cite journal| author=Rathi N, Rathi A| title=Galactosemia presenting as recurrent sepsis. | journal=J Trop Pediatr | year= 2011 | volume= 57 | issue= 6 | pages= 487-9 | pmid=21321007 | doi=10.1093/tropej/fmr018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21321007 }} </ref>: [[Polymorphonuclear]] [[leukocytosis]], elevated [[CRP]], [[E.coli]] isolated from [[blood]] [[culture]] | * Active/recurrent [[sepsis]], usually by [[E.coli]]<ref name="pmid21321007">{{cite journal| author=Rathi N, Rathi A| title=Galactosemia presenting as recurrent sepsis. | journal=J Trop Pediatr | year= 2011 | volume= 57 | issue= 6 | pages= 487-9 | pmid=21321007 | doi=10.1093/tropej/fmr018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21321007 }} </ref>: [[Polymorphonuclear]] [[leukocytosis]], elevated [[CRP]], [[E.coli]] isolated from [[blood]] [[culture]] | ||
* Direct and/or indirect [[hyperbilirubinemia]]<ref name="pmid20351709">{{cite journal| author=Woo HC, Phornphutkul C, Laptook AR| title=Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. | journal=J Perinatol | year= 2010 | volume= 30 | issue= 4 | pages= 295-7 | pmid=20351709 | doi=10.1038/jp.2009.136 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20351709 }} </ref> | |||
==References== | ==References== | ||
Revision as of 22:22, 4 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
Laboratory Findings
Direct evidence[1]
- Absent/decreased activity of galactose-1-phosphate uridyl transferase/galactokinase/epimerase in blood
- Increased concentration of galactose-1-phosphate in RBCs
- Raised levels of galactose in blood and urine
Indirect evidence
- Active/recurrent sepsis, usually by E.coli[2]: Polymorphonuclear leukocytosis, elevated CRP, E.coli isolated from blood culture
- Direct and/or indirect hyperbilirubinemia[3]
References
- ↑ Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B (1979). "[Clinical and biochemical diagnosis of galactosemia among our cases]". Probl Med Wieku Rozwoj. 8: 63–9. PMID 263527.
- ↑ Rathi N, Rathi A (2011). "Galactosemia presenting as recurrent sepsis". J Trop Pediatr. 57 (6): 487–9. doi:10.1093/tropej/fmr018. PMID 21321007.
- ↑ Woo HC, Phornphutkul C, Laptook AR (2010). "Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia". J Perinatol. 30 (4): 295–7. doi:10.1038/jp.2009.136. PMID 20351709.