Galactosemia laboratory findings

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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.

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]

↑ 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).