Galactose 1-phosphate

D-Galactose-1-phosphate is an intermediate in the intraconversion of glucose and uridine diphosphate galactose.[1] It is formed from galactose by galactokinase.The improper metabolism of galactose-1-phosphate is a characteristic of galactosemia.[2] The Leloir pathway is responsible for such metabolism of galactose and its intermediate, galactose-1-phosphate. Deficiency of enzymes found in this pathway can result in galactosemia; therefore, diagnosis of this genetic disorder occasionally involves measuring the concentration of these enzymes.[3] One of such enzymes is galactose-1-phosphate uridylytransferase (GALT). The enzyme catalyzes the transfer of a UDP-activator group from UDP-glucose to galactose-1-phosphate. Although the cause of enzyme deficiency in the Leloir pathway is still disputed amongst researchers, some studies suggest that protein misfolding of GALT, which may lead to an unfavorable conformational change that impacts its thermal stability and substrate-binding affinity, may play a role in the deficiency of GALT in Type 1 galactosemia.[4] Increase in galactitol concentration can be seen in patients with galactosemia; putting patients at higher risk for presenile cataract.[5]

Galactose 1-phosphate
Names
IUPAC name
[3,4,5-Trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxyphosphonic acid
Identifiers
3D model (JSmol)
ChemSpider
MeSH Galactose-1-phosphate
Properties
C6H13O9P
Molar mass 260.136
Except where otherwise noted, data are given for materials in their standard state (at 25 °C [77 °F], 100 kPa).
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Infobox references

See also

References
  1. "Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia)". StatPearls. StatPearls Publishing. 2018.
  2. Gitzelmann, R. (1995). "Galactose-1-phosphate in the pathophysiology of galactosemia". European Journal of Pediatrics. 154 (7 Suppl 2): S45–S49. doi:10.1007/BF02143803. PMID 7671964. S2CID 33277700.
  3. McCorvie, Thomas J.; Gleason, Tyler J.; Fridovich-Keil, Judith L.; Timson, David J. (August 2013). "Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1832 (8): 1279–1293. doi:10.1016/j.bbadis.2013.04.004. ISSN 0925-4439. PMC 3679265. PMID 23583749.
  4. McCorvie, Thomas J.; Gleason, Tyler J.; Fridovich-Keil, Judith L.; Timson, David J. (August 2013). "Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1832 (8): 1279–1293. doi:10.1016/j.bbadis.2013.04.004. ISSN 0925-4439. PMC 3679265. PMID 23583749.
  5. Ficicioglu, Can; Hussa, Christie; Gallagher, Paul R; Thomas, Nina; Yager, Claire (2010-07-01). "Monitoring of Biochemical Status in Children with Duarte Galactosemia: Utility of Galactose, Galactitol, Galactonate, and Galactose 1-Phosphate". Clinical Chemistry. 56 (7): 1177–1182. doi:10.1373/clinchem.2010.144097. ISSN 0009-9147. PMID 20489133.


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