Differentiating Galactosemia from other diseases

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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]


Galactosemia closely resembles other metabolic disorders which form important differential diagnoses in clinical practice.

Differentiating Galactosemia from other Diseases

Galactosemia needs to differentiated from other diseases like:


  1. Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M (2000). "Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method". Clin Chim Acta. 298 (1–2): 175–9. doi:10.1016/s0009-8981(00)00220-5. PMID 10876013.
  2. Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J (1997). "Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia". J Inherit Metab Dis. 20 (4): 607–8. doi:10.1023/a:1005375629820. PMID 9266402.
  3. Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E (2017). "False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency". JIMD Rep. 36: 1–5. doi:10.1007/8904_2016_34. PMC 5680284. PMID 28078493.
  4. 4.0 4.1 4.2 Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A; et al. (2013). "Literature review and outcome of classic galactosemia diagnosed in the neonatal period". Clin Lab. 59 (9–10): 1139–46. doi:10.7754/clin.lab.2013.121235. PMID 24273939.
  5. Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M (2011). "The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran". Iran J Public Health. 40 (4): 99–104. PMC 3481732. PMID 23113108.
  6. 6.0 6.1 Bezerra JA, Wells RG, Mack CL, Karpen SJ, Hoofnagle JH, Doo E; et al. (2018). "Biliary Atresia: Clinical and Research Challenges for the Twenty-First Century". Hepatology. 68 (3): 1163–1173. doi:10.1002/hep.29905. PMC 6167205. PMID 29604222.
  7. 7.0 7.1 Feldman AG, Mack CL (2015). =ref&cmd=prlinks&id=25658057 "Biliary Atresia: Clinical Lessons Learned" Check |url= value (help). J Pediatr Gastroenterol Nutr. 61 (2): 167–75. doi:10.1097/MPG.0000000000000755. PMID 25658057.
  8. Santer R, Steinmann B, Schaub J (2002). "Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport". Curr Mol Med. 2 (2): 213–27. doi:10.2174/1566524024605743. PMID 11949937.
  9. Pena L, Charrow J (2011). "Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient". Am J Med Genet A. 155A (2): 415–7. doi:10.1002/ajmg.a.33822. PMID 21271664.
  10. Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J (1997). "Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome". Nat Genet. 17 (3): 324–6. doi:10.1038/ng1197-324. PMID 9354798.
  11. Sakamoto O, Jagadeesh S, Nampoothiri S (2012). "Fanconi-Bickel syndrome". Indian J Pediatr. 79 (1): 112–4. doi:10.1007/s12098-011-0373-5. PMID 21327337.
  12. 12.0 12.1 Luzzatto L, Nannelli C, Notaro R (2016). "Glucose-6-Phosphate Dehydrogenase Deficiency". Hematol Oncol Clin North Am. 30 (2): 373–93. doi:10.1016/j.hoc.2015.11.006. PMID 27040960.
  13. Beutler E, Mitchell M (1968). "Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency". Blood. 32 (5): 816–8. PMID 4386875.
  14. de Gurrola GC, Araúz JJ, Durán E, Aguilar-Medina M, Ramos-Payán R, García-Magallanes N; et al. (2008). "Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature". J Med Case Rep. 2: 146. doi:10.1186/1752-1947-2-146. PMC 2391151. PMID 18460213.
  15. Singh B, Kaur P, Chan KH, Lahita RG, Maroules M, Chandran C (2020). "Severe Rhabdomyolysis in Glucose-6-Phosphate Dehydrogenase Deficiency". Am J Med Sci. 360 (1): 72–74. doi:10.1016/j.amjms.2020.03.018. PMID 32448501 Check |pmid= value (help).

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Differential diagnosis of galactosemia
Diseases Clinical manifestations Para-clinical findings Gold standard Additional findings
Galactosemia Hepatomegaly, jaundice, vomiting, cataract, sepsis, psychomotor retardation [4] Direct and indirect hyperbilirubinemia [4] Measurement of GALT/GALK/Epimerase activity in erthrocytes [5] Hemophagocytosis, purpura fulminans [4]
Biliary atresia Persistent jaundice, dark urine, clay-colored stools, hepatomegaly [6] Elevated total and direct bilirubin, ALT, AST, GGT [7] Atretic biliary tree on liver biopsy [6] Ascites, splenomegaly [7]
Fanconi Bickel syndrome Hepatomegaly, glucose and galactose intolerance, severe growth retardation [8] Hyperlipidemia, tubular nephropathy [9] Mutation analysis of SLC2A2 gene encoding GLUT2 transporter [10] Genu varum, hypophosphatemic rickets, Fanconi syndrome [11]
Glucose-6-phosphate dehydrogenase deficiency Severe neonatal jaundice [12] Acute hemolytic anemia after certain infections, intake of some drugs or fava beans [12] Fluorescent spot test [13] Kernicterus [14], rhabdomyolysis [15]