Galactosemia pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
The ester is considered an indicator of biogenesis of galactose from glucose and is considered a pathogenic agent by the enzymes [[glucose-6-phosphatase]], [[glucose-6-phosphate dehydrogenase]], [[phosoglucomutase]], and [[glycogen phosophorylase]]. | |||
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> | |||
==References== | ==References== | ||
Revision as of 01:25, 30 December 2013
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Galactosemia pathophysiology On the Web |
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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
In unborn children with galactosemia, galactose-1-phosphate or gal-1-P is not well metabolised and accumulates in the fetus. After birth, it accumulates in various tissues after lactose is ingested. If successfully treated, individuals with galactosemia will retain a low level of red cell gal-1-P. These levels will increase if they ingest lactose again
Pathophysiology
The ester is considered an indicator of biogenesis of galactose from glucose and is considered a pathogenic agent by the enzymes glucose-6-phosphatase, glucose-6-phosphate dehydrogenase, phosoglucomutase, and glycogen phosophorylase. 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 [1]
References
- ↑ Gitzelmann R (1995). "Galactose-1-phosphate in the pathophysiology of galactosemia". Eur J Pediatr. 154 (7 Suppl 2): S45–9. PMID 7671964.