Galactosemia pathophysiology: Difference between revisions

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==Overview==
==Overview==


== Overview==
==Pathophysiology==
==Pathophysiology==
The ester is considered an indicator of biogenesis of galactose from glucose and a pathogenic agent by the enzymes [[glucose-6-phosphatase]], [[glucose-6-phosphate dehydrogenase]], [[phosoglucomutase]], and [[glycogen phosophorylase]].
*Galactose is an important metabolite of the human body both for neonatal and adult health, playing a vital role in systemic and cognitive development.  <ref name="pmid26001656">{{cite journal| author=Coelho AI, Berry GT, Rubio-Gozalbo ME| title=Galactose metabolism and health. | journal=Curr Opin Clin Nutr Metab Care | year= 2015 | volume= 18 | issue= 4 | pages= 422-7 | pmid=26001656 | doi=10.1097/MCO.0000000000000189 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26001656 }} </ref>
A futile cycle of [[galactose phosphorylation]] and [[dephosphorylation]], and the sequestration of phosphorus in gal-1-P are also suspected to play a role in the pathogenesis of galactosemia <ref name="pmid7671964">{{cite journal| author=Gitzelmann R| title=Galactose-1-phosphate in the pathophysiology of galactosemia. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 7 Suppl 2 | pages= S45-9 | pmid=7671964 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671964 }} </ref>
*
==='''Physiology'''===


==References==
==References==

Revision as of 14:28, 10 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]

Overview

Overview

Pathophysiology

  • Galactose is an important metabolite of the human body both for neonatal and adult health, playing a vital role in systemic and cognitive development. [1]

Physiology

References

  1. Coelho AI, Berry GT, Rubio-Gozalbo ME (2015). "Galactose metabolism and health". Curr Opin Clin Nutr Metab Care. 18 (4): 422–7. doi:10.1097/MCO.0000000000000189. PMID 26001656.

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