Differentiating Galactosemia from other diseases: Difference between revisions

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Latest revision as of 15:05, 18 August 2022

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

Overview

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:

References

↑ 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.
↑ 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.
↑ 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.
↑ ^4.0 ^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.
↑ 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.
↑ ^6.0 ^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.
↑ ^7.0 ^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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ ^12.0 ^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.
↑ 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.
↑ 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.
↑ 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).

Template:WH Template:WS

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]

[pmid10876013-1] 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.

[pmid9266402-2] 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.

[pmid28078493-3] 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.

[pmid24273939-4] 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.

[pmid23113108-5] 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.

[pmid29604222-6] 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.

[pmid25658057-7] 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.

[pmid11949937-8] 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.

[pmid21271664-9] 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.

[pmid9354798-10] 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.

[pmid21327337-11] 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.

[pmid27040960-12] 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.

[pmid4386875-13] 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.

[pmid18460213-14] 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.

[pmid32448501-15] 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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 {{Galactosemia}}
 {{CMG}}; {{AE}} {{Sujaya}}
-{{PleaseHelp}}
 ==Overview==
-{{CMG}} {{AE}} {{Sujaya}}
 [[Galactosemia]] closely resembles other [[metabolic]] [[disorders]] which form important [[differential]] [[diagnoses]] in clinical practice.

Differentiating Galactosemia from other diseases: Difference between revisions

Latest revision as of 15:05, 18 August 2022

Overview

Differentiating Galactosemia from other Diseases

References

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