Differentiating Galactosemia from other diseases: Difference between revisions

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==Overview==
==Differentiating Galactosemia from other Diseases==
==Differentiating Galactosemia from other Diseases==
Newborns suspected of suffering from galactosemia are tested for the three enzymes responsible for the metabolism of galactose, [[galactose-1-phosphate uridyl transferase]], [[galactokinase]] and [[UDP galactose epimerase]] either by examining a blood sample or a urine sample.
[[Galactosemia]] needs to differentiated from other [[diseases]] like:
 
* [[Biliary]] [[atresia]] <ref name="pmid10876013">{{cite journal| author=Sakura N, Mizoguchi N, Ono H, Yamaoka H, Hamakawa M| title=Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method. | journal=Clin Chim Acta | year= 2000 | volume= 298 | issue= 1-2 | pages= 175-9 | pmid=10876013 | doi=10.1016/s0009-8981(00)00220-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10876013  }} </ref>
Whereas lactose intolerant individual are diagnosed based on their symptoms that include bloating, diarrhoea, abdominal pain and flatulence. By simply eliminating milk or taking the enzyme lactase their symptoms get better and often disappear.
* [[Fanconi-Bickel]] [[syndrome]] <ref name="pmid9266402">{{cite journal| author=Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J| title=Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. | journal=J Inherit Metab Dis | year= 1997 | volume= 20 | issue= 4 | pages= 607-8 | pmid=9266402 | doi=10.1023/a:1005375629820 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9266402  }} </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>


==References==
==References==

Revision as of 21:36, 27 May 2022

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


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Overview

Differentiating Galactosemia from other Diseases

Galactosemia needs to differentiated from other diseases like:

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.

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