Metabolic fate of administered [13C]galactose in tissues of galactose-1-phosphate uridyl transferase deficient mice determined by nuclear magnetic resonance

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 42-48

  Wehrli, Suzanne ^a   Reynolds, Robert ^a   Segal, Stanton ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

13C; Galactose; Galactose metabolites; Galactosemia; Mice; Nuclear magnetic resonance

Indexed keywords

CARBON 13; GALACTITOL; GALACTONIC ACID; GALACTOSE; GALACTOSE 1 PHOSPHATE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GLUCOSE; LACTIC ACID; MONOSACCHARIDE;

ANIMAL TISSUE; ARTICLE; CARBOHYDRATE METABOLISM; CONTROLLED STUDY; GENOTYPE; HEART; ISOTOPE LABELING; KIDNEY; LIVER LEVEL; MOUSE; MUSCLE LEVEL; NONHUMAN; NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; TISSUE DISTRIBUTION; TISSUE LEVEL;

ANIMALS; CARBON ISOTOPES; GALACTOSE; GALACTOSEMIAS; MAGNETIC RESONANCE SPECTROSCOPY; MICE; MICE, INBRED BALB C; TISSUE DISTRIBUTION; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

ANIMALIA;

EID: 33845221326     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.07.007     Document Type: Article

References (37)

1. Schwartz V. The value of galactose phosphate determinations in treatment of galactosemia. Arch. Dis. Child 35 (1960) 428-432
2. Donnell G.N., Bergren W.R., Perez G., and Koch R. Galactose-1-phosphate in galactosemia. Pediatrics 31 (1963) 802-810
3. Gitzelmann R. Galactose-1-phosphate in the pathophysiology of galactosemia. Eur. J. Pediatr. 154 (1995) S45-S49
4. Chen J., Yager C., Reynolds R., Palmieri M., and Segal S. Erythrocyte galactose-1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry. Clin. Chem. 48 (2002) 604-612
5. Yager C.T., Chen J., Reynolds R., and Segal S. Galactitol and galactonate in red blood cells of galactosemic patients. Mol. Genet. Metab. 80 3 (2003) 283-289
6. Ficicioglu C., Yager C.T., and Segal S. Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia (D/G) genotype. Mol. Genet. Metab. 84 (2005) 152-159
7. Gitzelman R., Curtius H.-G., and Schnaller I. Galactitol and galactose-1-phosphate in the lens of a galactosemic infant. Exp. Eye Res. 6 (1967) 1-3
8. Ng W.G., Donnell G.N., Bergren W.R., Alfi O., and Geolbus M.S. Prenatal diagnosis of galactosemia. Clin. Chem. Acta. 74 (1977) 227-235
9. Quan-Ma R., Wells H.J., Wells W.W., Sherman F.E., and Egan T.J. Galactitol in the tissues of a galactosemic child. Am. J. Dis. Child 112 (1966) 477-478
10. Rancour N.J., Hawkens E.D., and Wells W.W. Galactose oxidation in liver. Arch. Biochem. Biophys. 193 (1979) 232-241
11. Wang Z.J., Berry G.T., Dreha S.F., Zhao G., Segal S., and Zimmerman R.A. Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Ann. Neurol. 50 (2001) 266-269
12. 31P magnetic resonance spectroscopy. Pediatr. Res. 32 (1992) 39-44
13. Leslie N.D., Yager K.L., McNamara P.D., and Segal S. A mouse model of galactose-1-phosphate uridyltransferase deficiency. Biochem. Mol. Med. 59 (1996) 7-12 1996
14. Ning C., Reynolds R., Chen J., Yager C., Berry G.T., McNamara P.D., Leslie N., and Segal S. Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr. Res. 48 (2000) 211-217
15. Ning C., Reynolds R., Chen J., Yager C., Berry G.T., Leslie N., and Segal S. Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week old animals fed a high-galactose diet. Mol. Genet. Metab. 72 (2001) 306-315
16. Yager C., Reynolds R., Ning C., Leslie N., and Segal S. Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase. Mol. Genet. Metab. 81 (2004) 105-111
17. 31P-NMR analysis of red blood cell UDPglucose and UDPgalactose: Comparison with HPLC and enzymatic methods. Analytical Biochem. 201 1 (1992) 105-110
18. 31P NMR spectroscopy of extracts. NMR Biomedi. 14 (2001) 192-198
19. Segal S., Wehrli S., Yager C., and Reynolds R. Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose. Mol. Genet. Metab. 87 (2006) 92-101
20. In: Foster H.L., Small J.D., and Fox J.G. (Eds). Mouse in Biomedical Research vol. 3 (1983), Academic Press, New York 108-109
21. Reisz-Porszasz S., Bhasin S., Artaza J.N., Shen R., Sinha-Hikim I., Hogue A., Fielder T.J., and Gonzalez-Cadavid N.F. Lower skeletal muscle mass in male transgenic mice with muscle-specific overexpression of myostatin. Am. J. Physiol. Endocrinol. Metab. 285 4 (2003) E876-E888
22. 13C]galactose oxidation studies in patients with galactosemia. Mol. Genet. Metab. 82 (2004) 130-136
23. Cuatrecasas P., and Segal S. Mammalian galactokinase. Developmental and adaptive characteristics in the rat liver. J. Biol. Chem. 240 (1965) 2382-2388
24. Isselbacher K.J. A mammalian uridinediphosphate galactose pyrophosphorylase. J. Biol. Chem. 232 (1958) 429-444
25. Leslie N., Yager C., Reynolds R., and Segal S. UDP galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency. Mol. Genet. Metab. 85 (2005) 21-27
26. Koop J.K., and Hanson R.G. Uridine diphosphate glucose pyrophosphorylase IV. Crystallization and properties of the enzyme from human liver. J. Biol. Chem. 245 (1970) 2499-2504
27. Hiatt H.H. Pentosuria. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eighth ed. vol. I (2001), McGraw-Hill, New York 1589-1600
28. Cuatrecasas P., and Segal S. Galactose conversion to d-xylulose: an alternate route of galactose metabolism. Science 153 (1966) 549-551
29. Abraham H.D., and Howell R.R. Human hepatic uridine diphosphate galactose pyrophosphorylase. Its characterization and activity during development. J. Biol. Chem. 244 (1969) 545-550
30. Shin Y.S., Niedermeier H.P., Endres W., Schaub J., and Seidinger S. Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase. Clin. Chim. Acta. 166 (1987) 27-35
31. Richman K., Crews C., and Fridovich-Keil J.L. Relationship between genotype activity and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridyltransferase. J. Biol. Chem. 276 (2001) 10634-10640
32. Lai K., Willis A.C., and Elsas L.J. The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase. J. Biol. Chem. 274 (1999) 6559-6566
33. Berry G.T., Leslie N., Reynolds R., Yager C.T., and Segal S. Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. Mol. Genet. Metab. 72 (2001) 316-321
34. 13C-galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy. Mol. Genet. Metab. 77 (2002) 296-303
35. 31P-NMR spectra of intact red blood cells: quantitation of UDPglucose and UDPgalactose. J. Mag. Res. Med. 30 (1993) 494-497
36. Wehrli S.L., Berry G.T., Palmieri M.J., Mazur A., Elsas L.J., and Segal S. Urinary galactonate in patients with galactosemia: quantitation by NMR spectroscopy. Pediatr. Res. 42 (1997) 855-861
37. Berry G.T., Wehrli S., Reynolds R., Palmieri M., Frangos M., Williamson J.R., and Segal S. Elevation of erythrocyte redox potential linked to galactonate biosynthesis: elimination by tolrestat. Metabolism 47 (1998) 1423-1428