Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Molecular Genetics and Metabolism

Volumn 112, Issue 4, 2014, Pages 275-279

  Morava, Eva ^a,b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CDG; Galactose; Glycogenolysis; Hypoglycemia; PGM1; Therapy

Indexed keywords

GALACTOSE; GLUCOSE; PHOSPHOGLUCOMUTASE; PROTEIN;

BIOCHEMICAL COMPOSITION; DIET RESTRICTION; DIET SUPPLEMENTATION; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; GALACTOSE SUPPLEMENTATION; GLYCOGEN STORAGE DISEASE; GLYCOGEN SYNTHESIS; GLYCOLYSIS; HUMAN; HYPOGLYCEMIA; MUSCLE DISEASE; PHENOTYPE; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; REVIEW; COMPLICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; DEFICIENCY; ENZYMOLOGY; METABOLISM; PATHOLOGY;

CONGENITAL DISORDERS OF GLYCOSYLATION; GALACTOSE; HUMANS; HYPOGLYCEMIA; MUSCULAR DISEASES; PHENOTYPE; PHOSPHOGLUCOMUTASE;

EID: 84905218061     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.06.002     Document Type: Review

References (24)

1. Timal S., Hoischen A., Lehle L., et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum. Mol. Genet. 2012, 21:4151-4161.
2. Stojkovic T., Vissing J., Petit F., et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N. Engl. J. Med. 2009, 361:425-427.
3. Tegtmeyer L.C., Rust S., van Scherpenzeel M., et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N. Engl. J. Med. 2014, 370:533-542.
4. Perez B., Medrano C., Ecay M.J., et al. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. J. Inherit. Metab. Dis. 2013, 36:535-542.
5. Scott K., Gadomski T., Kozicz T., Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014 May 15, [Electronic publication ahead of print].
6. van Scherpenzeel M., Timal S., Raymond S.K., et al. PGM1-deficiency with abnormal protein glycosylation; easy diagnosis and dietary intervention. J. Inherit. Metab. Dis. 2012, 35(Suppl. 1):S20-S20.
7. Ray W.J., Roscelli, Gertrude A. A kinetic study of the phosphoglucomutase pathway. J. Biol. Chem. 1964, 239:1228-1236.
8. Rayjr W., Mildvan A., Grutzner J. Phosphorus nuclear magnetic resonance studies of phosphoglucomutase and its metal ion complexes. Arch. Biochem. Biophys. 1977, 184:453-463.
9. Jagannathan V., Luck J.M. Phosphoglucomutase; mechanism of action. J. Biol. Chem. 1949, 179:569-575.
10. Najjar V.A., Pullman M.E. The occurrence of a group transfer involving enzyme (phosphoglucomutase) and substrate. Science 1954, 119:631-634.
11. Sugie H., Kobayashi J., Sugie Y. Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels. Neurology 1988, 38:602-605.
12. Nakashima H., Suo H., Ochiai J. A case of adult onset phosphoglucomutase deficiency. Rinsho Shinkeigaku 1992, 32:42-47.
13. Oldfors A., DiMauro S. New insights in the field of muscle glycogenoses. Curr. Opin. Neurol. 2013, 26:544-553.
14. Thomson W.H., Maclaurin J.C., Prineas J.W. Skeletal muscle glycogenosis: an investigation of two dissimilar cases. J. Neurol. Neurosurg. Psychiatry 1963, 26:60-68.
15. Preisler N., Laforêt P., Echaniz-Laguna A. Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency. J. Clin. Endocrinol. Metab. 2013, 98:E1235-E1240.
16. Mohamed M., Guillard M., Wortmann S.B., et al. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim. Biophys. Acta 2011, 1812:691-698.
17. Mandato C., Brive L., Miura Y., et al. Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr. Res. 2006, 59:293-298.
18. Misfeldt A.M., Freeze H.H., Morava E., Ficicioglu C., Stanley C.A. Hypoglycemia and increased insulin secretion in a new form of glycogen storage disease due to phosphoglucomutase-1 deficiency. E-PAS 2013, 2820.8.
19. Fernandez J., Saudubray J.M., van den Berghe G. Inborn metabolic diseases: diagnosis and treatment. 3.2.4 Galactose Loading Test 2006, Springer (Ed.).
20. De Smet E., Rioux J.P., Ammann H., Déziel C., Quérin S. FSGS permeability factor-associated nephrotic syndrome: remission after oral galactose therapy. Nephrol. Dial. Transplant. 2009, 24:2938-2940.
21. Thomas G., Schleis M.S. Pharmacotherapy. Oligosaccharide Toler. 2007, 27:1313-1321.
22. Birlouez-Aragon I., Alloussi S. Effect of prolonged galactose consumption on galactose tolerance in young healthy humans. Ann. Nutr. Metab. 1990, 34:1-7.
23. Macdermid P.W., Stannard S., Rankin D., Schillington D. A comparative analysis between the effects of galactose and glucose supplementation on endurance performance. Int. J. Sport Nutr. Exerc. Metab. 2012, 22:24-30.
24. Theodore E. Morava Congenital disorders of glycosylation: sweet news. Curr. Opin. Pediatr. 2011, 23:581-587.