Differentiating Galactosemia from other diseases: Difference between revisions
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| [[Galactosemia]] || [[Hepatomegaly]], [[jaundice]], [[vomiting]], [[cataract]], [[sepsis]], [[psychomotor]] [[retardation]] <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> || Direct and indirect [[hyperbilirubinemia]] <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> || Measurement of [[GALT]]/[[GALK]]/[[Epimerase]] activity in [[erthrocytes]] <ref name="pmid23113108">{{cite journal| author=Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M| title=The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran. | journal=Iran J Public Health | year= 2011 | volume= 40 | issue= 4 | pages= 99-104 | pmid=23113108 | doi= | pmc=3481732 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23113108 }} </ref> || [[Hemophagocytosis]], [[purpura]] [[fulminans]] <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> | | [[Galactosemia]] || [[Hepatomegaly]], [[jaundice]], [[vomiting]], [[cataract]], [[sepsis]], [[psychomotor]] [[retardation]] <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> || Direct and indirect [[hyperbilirubinemia]] <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> || Measurement of [[GALT]]/[[GALK]]/[[Epimerase]] activity in [[erthrocytes]] <ref name="pmid23113108">{{cite journal| author=Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M| title=The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran. | journal=Iran J Public Health | year= 2011 | volume= 40 | issue= 4 | pages= 99-104 | pmid=23113108 | doi= | pmc=3481732 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23113108 }} </ref> || [[Hemophagocytosis]], [[purpura]] [[fulminans]] <ref name="pmid24273939">{{cite journal| author=Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A | display-authors=etal| title=Literature review and outcome of classic galactosemia diagnosed in the neonatal period. | journal=Clin Lab | year= 2013 | volume= 59 | issue= 9-10 | pages= 1139-46 | pmid=24273939 | doi=10.7754/clin.lab.2013.121235 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24273939 }} </ref> | ||
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| [[Biliary]] [[atresia]] || Persistent [[jaundice]], dark [[urine]], clay-colored stools, [[hepatomegaly]] <ref name="pmid29604222">{{cite journal| author=Bezerra JA, Wells RG, Mack CL, Karpen SJ, Hoofnagle JH, Doo E | display-authors=etal| title=Biliary Atresia: Clinical and Research Challenges for the Twenty-First Century. | journal=Hepatology | year= 2018 | volume= 68 | issue= 3 | pages= 1163-1173 | pmid=29604222 | doi=10.1002/hep.29905 | pmc=6167205 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29604222 }} </ref> || Elevated total and direct [[bilirubin,]] [[ALT]], [[AST]], [[GGT]] <ref name="pmid25658057">{{cite journal| author=Feldman AG, Mack CL| title=Biliary Atresia: Clinical Lessons Learned. | journal=J Pediatr Gastroenterol Nutr | year= 2015 | volume= 61 | issue= 2 | pages= 167-75 | pmid=25658057 | doi=10.1097/MPG.0000000000000755 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25658057 }} </ref>|| Atretic [[biliary]] tree on [[liver]] [[biopsy]] <ref name="pmid29604222">{{cite journal| author=Bezerra JA, Wells RG, Mack CL, Karpen SJ, Hoofnagle JH, Doo E | display-authors=etal| title=Biliary Atresia: Clinical and Research Challenges for the Twenty-First Century. | journal=Hepatology | year= 2018 | volume= 68 | issue= 3 | pages= 1163-1173 | pmid=29604222 | doi=10.1002/hep.29905 | pmc=6167205 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29604222 }} </ref> || [[Ascites]], [[splenomegaly]] <ref name="pmid25658057">{{cite journal| author=Feldman AG, Mack CL| title=Biliary Atresia: Clinical Lessons Learned. | journal=J Pediatr Gastroenterol Nutr | year= 2015 | volume= 61 | issue= 2 | pages= 167-75 | pmid=25658057 | doi=10.1097/MPG.0000000000000755 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25658057 }} </ref> | | [[Biliary]] [[atresia]] || Persistent [[jaundice]], dark [[urine]], clay-colored stools, [[hepatomegaly]] <ref name="pmid29604222">{{cite journal| author=Bezerra JA, Wells RG, Mack CL, Karpen SJ, Hoofnagle JH, Doo E | display-authors=etal| title=Biliary Atresia: Clinical and Research Challenges for the Twenty-First Century. | journal=Hepatology | year= 2018 | volume= 68 | issue= 3 | pages= 1163-1173 | pmid=29604222 | doi=10.1002/hep.29905 | pmc=6167205 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29604222 }} </ref> || Elevated total and direct [[bilirubin,]] [[ALT]], [[AST]], [[GGT]] <ref name="pmid25658057">{{cite journal| author=Feldman AG, Mack CL| title=Biliary Atresia: Clinical Lessons Learned. | journal=J Pediatr Gastroenterol Nutr | year= 2015 | volume= 61 | issue= 2 | pages= 167-75 | pmid=25658057 | doi=10.1097/MPG.0000000000000755 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode =ref&cmd=prlinks&id=25658057 }} </ref>|| Atretic [[biliary]] tree on [[liver]] [[biopsy]] <ref name="pmid29604222">{{cite journal| author=Bezerra JA, Wells RG, Mack CL, Karpen SJ, Hoofnagle JH, Doo E | display-authors=etal| title=Biliary Atresia: Clinical and Research Challenges for the Twenty-First Century. | journal=Hepatology | year= 2018 | volume= 68 | issue= 3 | pages= 1163-1173 | pmid=29604222 | doi=10.1002/hep.29905 | pmc=6167205 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29604222 }} </ref> || [[Ascites]], [[splenomegaly]] <ref name="pmid25658057">{{cite journal| author=Feldman AG, Mack CL| title=Biliary Atresia: Clinical Lessons Learned. | journal=J Pediatr Gastroenterol Nutr | year= 2015 | volume= 61 | issue= 2 | pages= 167-75 | pmid=25658057 | doi=10.1097/MPG.0000000000000755 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25658057 }} </ref> | ||
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| [[Fanconi]] [[Bickel]] [[syndrome]] || | | [[Fanconi]] [[Bickel]] [[syndrome]] || [[Hepatomegaly]], [[glucose]] and [[galactose]] intolerance, severe [[growth]] [[retardation]] <ref name="pmid11949937">{{cite journal| author=Santer R, Steinmann B, Schaub J| title=Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. | journal=Curr Mol Med | year= 2002 | volume= 2 | issue= 2 | pages= 213-27 | pmid=11949937 | doi=10.2174/1566524024605743 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11949937 }} </ref>|| [[Hyperlipidemia]], [[tubular]] [[nephropathy]] <ref name="pmid21271664">{{cite journal| author=Pena L, Charrow J| title=Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. | journal=Am J Med Genet A | year= 2011 | volume= 155A | issue= 2 | pages= 415-7 | pmid=21271664 | doi=10.1002/ajmg.a.33822 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21271664 }} </ref>|| [[Mutation]] [[analysis]] of [[SLC2A2]] [[gene]] encoding [[GLUT2]] transporter <ref name="pmid9354798">{{cite journal| author=Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J| title=Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. | journal=Nat Genet | year= 1997 | volume= 17 | issue= 3 | pages= 324-6 | pmid=9354798 | doi=10.1038/ng1197-324 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9354798 }} </ref> || [[Genu]] [[varum]], [[hypoophosphatemic]] [[rickets]], [[Fanconi]] [[syndrome]] <ref name="pmid21327337">{{cite journal| author=Sakamoto O, Jagadeesh S, Nampoothiri S| title=Fanconi-Bickel syndrome. | journal=Indian J Pediatr | year= 2012 | volume= 79 | issue= 1 | pages= 112-4 | pmid=21327337 | doi=10.1007/s12098-011-0373-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21327337 }} </ref> | ||
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| [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] || Example || Example || Example || Example | | [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] || Example || Example || Example || Example | ||
Revision as of 22:12, 27 June 2022
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Overview
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.
| 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, hypoophosphatemic rickets, Fanconi syndrome [11] |
| Glucose-6-phosphate dehydrogenase deficiency | Example | Example | Example | Example |