Oral D-galactose supplementation in PGM1-CDG

Genetics in Medicine

Volumn 19, Issue 11, 2017, Pages 1226-1235

  Wong, Sunnie Yan Wai ^a   Gadomski, Therese ^a   Van Scherpenzeel, Monique ^b   Honzik, Tomas ^c   Hansikova, Hana ^c   Holmefjord, Katja S Brocke ^d   Mork, Marit ^d   Bowling, Francis ^e   Sykut Cegielska, Jolanta ^f   Koch, Dieter ^g   Hertecant, Jozef ^h   Preston, Graeme ^a   Jaeken, Jaak ⁱ   Peeters, Nicole ^a   Perez, Stefanie ^a   Nguyen, David Do ^a   Crivelly, Kea ^a   Emmerzaal, Tim ^j   Gibson, K Michael ^k   Raymond, Kimiyo ^l   Abu Bakar, Nurulamin ^b   Foulquier, Francois ^m   Poschet, Gernot ⁿ   Ackermann, Amanda M ^o   He, Miao ^o   Lefeber, Dirk J ^b   Thiel, Christian ⁿ   Kozicz, Tamas ^a,j   Morava, Eva ^a   more..

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY   (Netherlands)

^c CHARLES UNIVERSITY   (Czech Republic)

^d STAVANGER UNIVERSITY HOSPITAL   (Norway)

^e MATER CHILDREN S HOSPITAL   (Australia)

^f INSTITUTE OF MOTHER AND CHILD   (Poland)

^g Bergisch Gladbacher Koln   (Germany)

^h TAWAM HOSPITAL   (United Arab Emirates)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k WASHINGTON STATE UNIVERSITY   (United States)

^l MAYO CLINIC   (United States)

^m UNIV LILLE   (France)

ⁿ UNIVERSITY OF HEIDELBERG   (Germany)

^o CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

coagulation; glycomics; glycosylation; LLO; phosphoglucomutase 1

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTITHROMBIN III; ASPARTATE AMINOTRANSFERASE; GALACTOSE; GLYCAN; NUCLEOTIDE; OLIGOSACCHARIDE; TRANSFERRIN; URIDINE DIPHOSPHATE GALACTOSE; URIDINE DIPHOSPHATE GLUCOSE; CREATINE KINASE; GLYCOPROTEIN; PGM1 PROTEIN, HUMAN; PHOSPHOGLUCOMUTASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; ENDOCRINE FUNCTION; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GLYCOSYLATION; HUMAN; HUMAN CELL; IN VITRO STUDY; LIVER FUNCTION; MALE; PARTIAL THROMBOPLASTIN TIME; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PILOT STUDY; PROSPECTIVE STUDY; SUPPLEMENTATION; TRANSFERRIN BLOOD LEVEL; YOUNG ADULT; BLOOD; CLINICAL TRIAL; CYTOLOGY; DOSE RESPONSE; GLUCOSE BLOOD LEVEL; GLYCOGEN STORAGE DISEASE; INFANT; METABOLISM; ORAL DRUG ADMINISTRATION; PRESCHOOL CHILD; SKIN;

ADMINISTRATION, ORAL; ADOLESCENT; BLOOD COAGULATION; BLOOD GLUCOSE; CHILD; CHILD, PRESCHOOL; CREATINE KINASE; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GALACTOSE; GLYCOGEN STORAGE DISEASE; GLYCOPROTEINS; HUMANS; INFANT; MALE; PHOSPHOGLUCOMUTASE; PILOT PROJECTS; PROSPECTIVE STUDIES; SKIN; TRANSFERRIN; YOUNG ADULT;

EID: 85029661973     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.41     Document Type: Article

References (23)

1. Jaeken J. Congenital disorders of glycosylation (CDG): it's (nearly) all in it!. J Inherit Metab Dis 2011; 34: 853-858.
2. 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.
3. Tegtmeyer LC, Rust S, van Scherpenzeel M, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 2014; 370: 533-542.
4. Wong SY-W, Beamer LJ, Gadomski T, et al. Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency. J Pediatr 2016; 175: 130-136. e8.
5. Morava E. Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab 2014; 112: 275-279.
6. Stojkovic T, Vissing J, Petit F, et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med 2009; 361: 425-427.
7. Beamer LJ. Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function. J Inherit Metab Dis 2015; 38: 243-256.
8. Lee Y, Stiers KM, Kain BN, et al. Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency. J Biol Chem 2014; 289: 32010-32019.
9. De Smet E, Rioux J-P, Ammann H, et al. FSGS permeability factorassociated nephrotic syndrome: remission after oral galactose therapy. Nephrol Dial Transplant 2009; 24: 2938-2940.
10. van Scherpenzeel M, Steenbergen G, Morava E, et al. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Transl Res 2015; 166: 639-649. e1.
11. Thiel C, Schwarz M, Peng J, et al. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem 2003; 278: 22498-22505.
12. Kochanowski N, Blanchard F, Cacan R, et al. Intracellular nucleotide and nucleotide sugar contents of cultured CHO cells determined by a fast, sensitive, and high-resolution ion-pair RP-HPLC. Anal Biochem 2006; 348: 243-251.
13. Xia B, Zhang W, Li X, et al. Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. Anal Biochem 2013; 442: 178-185.
14. Niehues R, Hasilik M, Alton G, et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998; 101: 1414-1420.
15. Ichikawa M, Scott DA, Losfeld M-E, et al. The metabolic origins of mannose in glycoproteins. J Biol Chem 2014; 289: 6751-6761.
16. Freeze HH. Perhaps a wee bit of sugar would help. Nat Genet 2016; 48: 705-707.
17. Scott K, Gadomski T, Kozicz T, et al. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis 2014; 37: 609-617.
18. Körner C, Knauer R, Holzbach U, et al. Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc: Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci USA 1998; 95: 13200-13205.
19. Chantret I, Dancourt J, Dupré T, et al. A deficiency in dolichyl-P-glucose: Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. J Biol Chem 2003; 278: 9962-9971.
20. Kranz C, Denecke J, Lehrman MA, et al. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest 2001; 108: 1613-1619.
21. Schenk B, Imbach T, Frank CG, et al. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest 2001; 108: 1687-1695.
22. Maliekal P, Sokolova T, Vertommen D, et al. Molecular identification of mammalian phosphopentomutase and glucose-1, 6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. J Biol Chem 2007; 282: 31844-31851.
23. Ondruskova N, Honzik T, Vondrackova A, et al. Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient. Neuro Endocrinol Lett 2014; 35: 137-141.