Galactosemia laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
===Direct <ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue= | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527 }} </ref>=== | ===Direct evidence<ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue= | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527 }} </ref>=== | ||
* Absent/decreased activity of [[galactose-1-phosphate uridyl transferase]]/[[galactokinase]]/[[epimerase]] in [[blood]] | * Absent/decreased activity of [[galactose-1-phosphate uridyl transferase]]/[[galactokinase]]/[[epimerase]] in [[blood]] | ||
* Increased concentration of [[galactose-1-phosphate]] in [[RBC]]s | * Increased concentration of [[galactose-1-phosphate]] in [[RBC]]s | ||
* Raised levels of [[galactose]] in [[blood]] and [[urine]] | * Raised levels of [[galactose]] in [[blood]] and [[urine]] | ||
===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]] | |||
==References== | ==References== | ||
Revision as of 22:14, 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
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.