Galactosemia history and symptoms: Difference between revisions
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[[Galactosemia]] is manifested mostly in the first week of life. Hence, [[diagnosis]] is mainly [[clinical]] and by [[newborn]] [[screening]], some being detected occasionally by [[family]] [[history]].<ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue= | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527 }} </ref> | [[Galactosemia]] is manifested mostly in the first week of life. Hence, [[diagnosis]] is mainly [[clinical]] and by [[newborn]] [[screening]], some being detected occasionally by [[family]] [[history]].<ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue= | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527 }} </ref> | ||
==Symptoms== | ==Symptoms <ref name="pmid263527">{{cite journal| author=Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B| title=[Clinical and biochemical diagnosis of galactosemia among our cases]. | journal=Probl Med Wieku Rozwoj | year= 1979 | volume= 8 | issue= | pages= 63-9 | pmid=263527 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=263527 }} </ref>== | ||
* [[Jaundice]] | |||
* [[Vomiting]] | |||
* [[Diarrhea]] | |||
* [[Failure]] to thrive on [[galactose]] containing foods e.g. [[breast]] milk, formulas containing cow's milk <ref name="pmid7642981">{{cite journal| author=Lewis V, Welch F, Cherry F, Flood E, Marble M| title=Galactosemia: clinical features, diagnosis and management. A case report. | journal=J La State Med Soc | year= 1995 | volume= 147 | issue= 6 | pages= 262-5 | pmid=7642981 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7642981 }} </ref> | |||
==References== | ==References== | ||
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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]
Overview
History
Galactosemia is manifested mostly in the first week of life. Hence, diagnosis is mainly clinical and by newborn screening, some being detected occasionally by family history.[1]
Symptoms [1]
- Jaundice
- Vomiting
- Diarrhea
- Failure to thrive on galactose containing foods e.g. breast milk, formulas containing cow's milk [2]
References
- ↑ 1.0 1.1 Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B (1979). "[Clinical and biochemical diagnosis of galactosemia among our cases]". Probl Med Wieku Rozwoj. 8: 63–9. PMID 263527.
- ↑ Lewis V, Welch F, Cherry F, Flood E, Marble M (1995). "Galactosemia: clinical features, diagnosis and management. A case report". J La State Med Soc. 147 (6): 262–5. PMID 7642981.