Galactosemia pathophysiology: Difference between revisions
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Revision as of 14:08, 26 July 2016
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Galactosemia Microchapters |
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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 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.