Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection

Analytical Biochemistry

Volumn 317, Issue 1, 2003, Pages 12-18

  Orvisky, E ^a,b   Stubblefield, B ^a,b   Long, R T ^a,b   Martin, B M ^a   Sidransky, E ^a,b,c   Krasnewich, D ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c Section on Molecular Neurogenetics   (United States)

Author keywords

Congenital disorders of glycosylation; HPAEC PAD; Mannose 1 phosphate; Phosphomannomutase activity

Indexed keywords

CELL CULTURE; CHROMATOGRAPHY; ELECTROPHORESIS; ENZYMES; OLIGOSACCHARIDES; SPECTROPHOTOMETRY;

CONGENITAL DISORDERS; HIGH-PH ANION-EXCHANGE CHROMATOGRAPHIES; HPAEC-PAD; MANNOSE 6 PHOSPHATES; OLIGOSACCHARIDE SYNTHESIS; PULSED AMPEROMETRIC DETECTION; SPECTRO-PHOTOMETRIC METHOD; SYNTHESIS AND PROCESSING;

GLYCOSYLATION;

CARBOHYDRATE DERIVATIVE; MANNOSE 1 PHOSPHATE; MANNOSE 6 PHOSPHATE; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

ACCURACY; AMPEROMETRY; ANION EXCHANGE CHROMATOGRAPHY; ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; HETEROZYGOTE; HUMAN; HUMAN CELL; LYMPHOBLAST; PH; PRIORITY JOURNAL; SPECTROPHOTOMETRY;

EID: 0037410144     PISSN: 00032697     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-2697(03)00109-X     Document Type: Article

References (28)

1. J. Jaeken, M. Vanderschueren-Lodeweyck, P. Casaer, L. Snoeck, L. Corbeel, E. Eggermont, R. Eeckels, Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase-A and increased CSF protein - new syndrome? Pediatr. Res. 14 (1980) 179.
2. Jaeken J., Carchon H. The carbohydrate-deficient glycoprotein syndromes - an overview. J. Inherit. Metab. Dis. 16:1993;813-820.
3. Krasnewich D.M., Gahl W.A. Carbohydrate-deficient glycoprotein syndrome. Adv. Pediatr. 44:1997;109-140.
4. Jaeken J., Vaneijk H.G., Vanderheul C., Corbeel L., Eeckels R., Eggermont E. Sialic acid deficient serum and cerebrospinal fluid transferrin in a newly recognized syndrome. Clin. Chim. Acta. 144:1984;245-247.
5. Jaeken J., Matthijs G. Congenital disorders of glycosylation. Annu. Rev. Genom. Hum. Genet. 2:2001;129-151.
6. Yamashita K., Ideo H., Ohkura T., Fukushima K., Yuasa I., Ohno K., Takeshita K. Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. J. Biol. Chem. 268:1993;5783-5789.
7. Powell L.D., Paneerselvam K., Vij R., Diaz S., Manzi A., Buist N., Freeze H. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J. Clin. Invest. 94:1994;1901-1909.
8. Krasnewich D.M., Holt G.D., Brantly M., Skovby F., Redwine J., Gahl W.A. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology. 5:1995;503-510.
9. Ohkura T., Fukushima K., Kurisaki A., Sagami H., Ogura K., Ohno K., Hara-Kuge S., Yamashita K. A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I. J. Biol. Chem. 272:1997;6868-6875.
10. Van Schaftigen E., Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS. Lett. 377:1995;318-320.
11. Martinsson T., Bjursell C., Stibler H., Kristiansson B., Skovby F., Jaeken J., Blennow G., Stromme P., Hanefeld F., Wahlstrom J. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum. Mol. Genet. 3:1994;2037-2042.
12. Matthijs G., Schollen E., Bjursell C., Erlandson A., Freeze H., Imtiaz F., Kjaergaard S., Martinsson T., Schwartz M., Seta N., Vuillaumier-Barrot S., Westphal V., Winchester B. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum. Mutat. 16:2000;386-394.
13. Akaboshi S., Ohno K., Takeshita K. Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. Neuroradiology. 37:1995;491-495.
14. Jensen P.R., Hansen F.J., Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology. 37:1995;328-330.
15. Hagberg B.A., Blennow G., Kristiansson B., Stibler H. Carbohydrate-deficient glycoprotein syndromes - peculiar group of new disorders. Pediatr. Neurol. 9:1993;255-262.
16. Petersen M.B., Brostrom K., Stibler H., Skovby F. Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J. Pediatr. 122:1993;66-70.
17. Hutchesson A.C., Gray R.G., Spencer D.A., Keir G. Carbohydrate-deficient glycoprotein syndrome - multiple abnormalities and diagnostic delay. Arch. Dis. Child. 72:1995;445-446.
18. Silva M.T., Decastro J., Stibler H., Simon R., Yrigoyen A.C., Mateos F., Ferrer I., Madero S., Velasco J.M., Guttierrezlarraya F. Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome. J. Inherit. Metab. Dis. 19:1996;257-259.
19. Okamoto N., Wada Y., Kobayashi M., Otani K., Tagawa T., Futagi Y., Imayoshi Y., Hayashi A., Shimizu A., Kato Y. Decreased blood-coagulation activities in carbohydrate-deficient glycoprotein syndrome. J. Inherit. Metab. Dis. 16:1993;435-440.
20. Van Geet C., Jaeken J. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. Pediatr. Res. 33:1993;540-541.
21. Stibler H., Holzbach U., Tengborn L., Kristiansson B. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I. Blood Coagul. Fibrinolysis. 7:1996;118-126.
22. Stibler H., Blennow G., Kristiansson B., Lindehammer A., Hagberg B. Carbohydrate-deficient glycoprotein syndrome - clinical expression in adults with a new metabolic disease. J. Neurol. Neurosurg. Psychiatry. 57:1994;552-556.
23. Barone R., Pavone L., Fiumara A., Bianchini R., Jaeken J. Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type1a (phosphomannomutase deficiency). Brain Dev. 21:1999;260-263.
24. Pindar D.F., Bucke C. The biosynthesis of alginic acid by Azotobacter vinelandii. Biochem. J. 152:1975;617-622.
25. Najjar V.A. Phosphoglucomutase from muscle. Colowick S.P., Kaplan N.O. Methods in Enzymology 1. 1955;294-299 Academic Press, New York.
26. Guha S.K., Rose Z.B. The synthesis of mannose-1-phosphate in brain. Arch. Biochim. Biophys. 243:1985;168-173.
27. Grunewald S., Schollen E., Van Schaftigen E., Jaeken J., Matthijs G. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am. J. Hum. Genet. 68:2001;347-354.
28. Murata T. Purification and some properties of phosphomannomutase from corms of Amorphophallus konjack C. Koch. Plant Cell Physiol. 17:1976;1099-1109.