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Differentiating Galactosemia from other diseases

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]

Overview

Overview

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

Differentiating Galactosemia from other Diseases

Differentiating Galactosemia from other Diseases

Galactosemia needs to differentiated from other diseases like:

References

References

  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]

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