Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Galactosemia laboratory findings
Introduction
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
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
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). PMIDÂ 32185352 Check|pmid=value (help).
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]