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>=== | |||
* Absent/decreased activity of [[galactose-1-phosphate uridyl transferase]]/[[galactokinase]]/[[epimerase]] in [[blood]] | |||
* Increased concentration of [[galactose-1-phosphate]] in [[RBC]]s | |||
* Raised levels of [[galactose]] in [[blood]] and [[urine]] | |||
==References== | ==References== |
Revision as of 22:06, 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 [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
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.