Galactosemia laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
[[Galactosemia]] can be confirmed by a panel of [[laboratory]] [[investigations]] which provide both direct and indirect evidence of the [[disease]] by detecting abnormalities in [[blood]], [[urine]] and/or other body [[tissues]]. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
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* Raised [[liver]] [[enzymes]] ([[ALT]], [[AST]], [[ALP]])<ref name="pmid11827309">{{cite journal| author=Gnanou JV, Thykadavil VG, Uthappa S| title=Unusual presentation of galactosemia in a 4-month-old child. | journal=J Trop Pediatr | year= 2001 | volume= 47 | issue= 6 | pages= 372-3 | pmid=11827309 | doi=10.1093/tropej/47.6.372 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11827309 }} </ref> | * Raised [[liver]] [[enzymes]] ([[ALT]], [[AST]], [[ALP]])<ref name="pmid11827309">{{cite journal| author=Gnanou JV, Thykadavil VG, Uthappa S| title=Unusual presentation of galactosemia in a 4-month-old child. | journal=J Trop Pediatr | year= 2001 | volume= 47 | issue= 6 | pages= 372-3 | pmid=11827309 | doi=10.1093/tropej/47.6.372 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11827309 }} </ref> | ||
* [[Hypoalbuminemia]]<ref name="pmid11827309">{{cite journal| author=Gnanou JV, Thykadavil VG, Uthappa S| title=Unusual presentation of galactosemia in a 4-month-old child. | journal=J Trop Pediatr | year= 2001 | volume= 47 | issue= 6 | pages= 372-3 | pmid=11827309 | doi=10.1093/tropej/47.6.372 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11827309 }} </ref> | * [[Hypoalbuminemia]]<ref name="pmid11827309">{{cite journal| author=Gnanou JV, Thykadavil VG, Uthappa S| title=Unusual presentation of galactosemia in a 4-month-old child. | journal=J Trop Pediatr | year= 2001 | volume= 47 | issue= 6 | pages= 372-3 | pmid=11827309 | doi=10.1093/tropej/47.6.372 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11827309 }} </ref> | ||
* Uncorrectable [[coagulopathy]] ([[INR]]]>1.5 after [[Vitamin K]] injection <ref name="pmid26840667">{{cite journal| author=Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A| title=Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. | journal=Indian Pediatr | year= 2016 | volume= 53 | issue= 1 | pages= 27-31 | pmid=26840667 | doi=10.1007/s13312-016-0784-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26840667 }} </ref> | |||
* Recurrent [[hypoglycemia]] <ref name="pmid26840667">{{cite journal| author=Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A| title=Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. | journal=Indian Pediatr | year= 2016 | volume= 53 | issue= 1 | pages= 27-31 | pmid=26840667 | doi=10.1007/s13312-016-0784-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26840667 }} </ref> | |||
* Transient [[hemolysis]] <ref name="pmid26840667">{{cite journal| author=Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A| title=Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. | journal=Indian Pediatr | year= 2016 | volume= 53 | issue= 1 | pages= 27-31 | pmid=26840667 | doi=10.1007/s13312-016-0784-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26840667 }} </ref> | |||
* Decreased [[bone]] [[mineral]] density on [[DEXA]] scan <ref name="pmid32185352">{{cite journal| author=Gorial FI, Mohammed MJ| title=Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations. | journal=Mediterr J Rheumatol | year= 2019 | volume= 30 | issue= 2 | pages= 123-124 | pmid=32185352 | doi=10.31138/mjr.30.2.123 | pmc=7045964 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32185352 }} </ref> | |||
==References== | ==References== | ||
Latest revision as of 23:14, 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
Galactosemia can be confirmed by a panel of laboratory investigations which provide both direct and indirect evidence of the disease by detecting abnormalities in blood, urine and/or other body tissues.
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]
- Raised liver enzymes (ALT, AST, ALP)[4]
- Hypoalbuminemia[4]
- Uncorrectable coagulopathy (INR]>1.5 after Vitamin K injection [5]
- Recurrent hypoglycemia [5]
- Transient hemolysis [5]
- Decreased bone mineral density on DEXA scan [6]
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.
- ↑ 4.0 4.1 Gnanou JV, Thykadavil VG, Uthappa S (2001). "Unusual presentation of galactosemia in a 4-month-old child". J Trop Pediatr. 47 (6): 372–3. doi:10.1093/tropej/47.6.372. PMID 11827309.
- ↑ 5.0 5.1 5.2 Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A (2016). "Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center". Indian Pediatr. 53 (1): 27–31. doi:10.1007/s13312-016-0784-5. PMID 26840667.
- ↑ Gorial FI, Mohammed MJ (2019). "Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations". Mediterr J Rheumatol. 30 (2): 123–124. doi:10.31138/mjr.30.2.123. PMC 7045964 Check
|pmc=value (help). PMID 32185352 Check|pmid=value (help).