Differentiating Galactosemia from other diseases: Difference between revisions
Jump to navigation
Jump to search
Jose Loyola (talk | contribs) No edit summary |
|||
| (15 intermediate revisions by one other user not shown) | |||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Galactosemia}} | {{Galactosemia}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{Sujaya}} | ||
==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: | [[Galactosemia]] needs to differentiated from other [[diseases]] like: | ||
| Line 13: | Line 12: | ||
* [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] <ref name="pmid28078493">{{cite journal| author=Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E| title=False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=JIMD Rep | year= 2017 | volume= 36 | issue= | pages= 1-5 | pmid=28078493 | doi=10.1007/8904_2016_34 | pmc=5680284 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28078493 }} </ref> | * [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] <ref name="pmid28078493">{{cite journal| author=Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E| title=False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=JIMD Rep | year= 2017 | volume= 36 | issue= | pages= 1-5 | pmid=28078493 | doi=10.1007/8904_2016_34 | pmc=5680284 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28078493 }} </ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ Differential diagnosis of galactosemia | |+ Differential diagnosis of [[galactosemia]] | ||
|- | |- | ||
! Diseases !! Clinical manifestations !! Para-clinical findings !! Gold standard !! Additional findings | ! Diseases !! Clinical manifestations !! Para-clinical findings !! Gold standard !! Additional findings | ||
|- | |- | ||
| [[Galactosemia]] || | | [[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> | ||
|- | |||
| [[ | |||
|- | |- | ||
| [[ | | [[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> | ||
|- | |- | ||
| [[ | | [[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]], [[hypophosphatemic]] [[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> | ||
|- | |- | ||
| | | [[Glucose-6-phosphate]] [[dehydrogenase]] [[deficiency]] ||Severe [[neonatal]] [[jaundice]] <ref name="pmid27040960">{{cite journal| author=Luzzatto L, Nannelli C, Notaro R| title=Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=Hematol Oncol Clin North Am | year= 2016 | volume= 30 | issue= 2 | pages= 373-93 | pmid=27040960 | doi=10.1016/j.hoc.2015.11.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27040960 }} </ref> || [[Acute]] [[hemolytic]] [[anemia]] after certain [[infections]], intake of some [[drugs]] or fava beans <ref name="pmid27040960">{{cite journal| author=Luzzatto L, Nannelli C, Notaro R| title=Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=Hematol Oncol Clin North Am | year= 2016 | volume= 30 | issue= 2 | pages= 373-93 | pmid=27040960 | doi=10.1016/j.hoc.2015.11.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27040960 }} </ref> || [[Fluorescent ]] [[spot]] [[test]] <ref name="pmid4386875">{{cite journal| author=Beutler E, Mitchell M| title=Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. | journal=Blood | year= 1968 | volume= 32 | issue= 5 | pages= 816-8 | pmid=4386875 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4386875 }} </ref>|| [[Kernicterus]] <ref name="pmid18460213">{{cite journal| author=de Gurrola GC, Araúz JJ, Durán E, Aguilar-Medina M, Ramos-Payán R, García-Magallanes N | display-authors=etal| title=Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature. | journal=J Med Case Rep | year= 2008 | volume= 2 | issue= | pages= 146 | pmid=18460213 | doi=10.1186/1752-1947-2-146 | pmc=2391151 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18460213 }} </ref>, [[rhabdomyolysis]] <ref name="pmid32448501">{{cite journal| author=Singh B, Kaur P, Chan KH, Lahita RG, Maroules M, Chandran C| title=Severe Rhabdomyolysis in Glucose-6-Phosphate Dehydrogenase Deficiency. | journal=Am J Med Sci | year= 2020 | volume= 360 | issue= 1 | pages= 72-74 | pmid=32448501 | doi=10.1016/j.amjms.2020.03.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32448501 }} </ref> | ||
|} | |-} | ||
==References== | ==References== | ||
Latest revision as of 15:05, 18 August 2022
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Differentiating Galactosemia from other diseases On the Web |
|
American Roentgen Ray Society Images of Differentiating Galactosemia from other diseases |
|
Differentiating Galactosemia from other diseases in the news |
|
Risk calculators and risk factors for 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
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).