Oligosaccharide excretion in adult Gaucher disease

Journal of Inherited Metabolic Disease

Volumn 21, Issue 1, 1998, Pages 49-59

  De Jong, J G N ^a   Aerts, J M F G ^b   Van Weely, S ^b   Hollak, C E M ^b   Van Pelt, J ^c   Van Woerkom, L M J ^a   Liebrand Van Sambeek, M L F ^a   Wevers, R A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c Laboratory for Clinical Chemistry   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; GLYCOLIPID; MANNOSE; MANNOSYLGLYCOASPARAGINE; N ACETYLGLUCOSAMINE; OLIGOSACCHARIDE; SIALYLOLIGOSACCHARIDE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; EXCRETION; GAS CHROMATOGRAPHY; GAUCHER DISEASE; HUMAN; LYSOSOME; LYSOSOME STORAGE DISEASE; SPLEEN; THIN LAYER CHROMATOGRAPHY; URINARY EXCRETION;

ADULT; CARBOHYDRATES; CHROMATOGRAPHY, THIN LAYER; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; OLIGOSACCHARIDES; SEVERITY OF ILLNESS INDEX;

EID: 0031975508     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005311430722     Document Type: Article

References (26)

1. Aerts JMFG, van Weely S, Boot R, Hollak CEM, Tager JM (1993) The pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J Inher Metab Dis 16: 288-291.
2. Barton NW, Brady RO, Dambrosia JM et al (1991) Replacement therapy for inherited enzyme deficiency. Macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464-1470.
3. Beutler E (1991) Gaucher's disease. N Engl J Med 325: 1354-1360.
4. Beutler E, Grabowski GA (1995) Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2641-2670.
5. Beutler E, Kay A, Saven A, et al (1991) Enzyme replacement therapy for Gaucher disease. Blood 78: 1183-1189.
6. Blom W, Luteijn JC, Kelholte-Dijkman H, Huijmans JG, Loonen MC (1983) Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency. Clin Chim Acta 134: 221-227.
7. Chaplin MF (1986) Monosaccharides. In Chaplin MF, Kennedy JF, eds. Carbohydrate Analysis. A Practical Approach. Oxford: IRL Press, 23-32.
8. DeGasperi R, Alroy J, Richard R (1990) Glycoprotein storage in Gaucher disease: lectin histochemistry and biochemical studies. Lab Invest 63: 385-393.
9. de Jong J, van den Berg C, Wijburg H et al (1994) α-N-Acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. J Pediatr 125: 385-391.
10. Fallet S, Grace ME, Sibille A et al (1992) Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res 31: 496-502.
11. Gravel RA, Clarke JTR, Kaback MM (1995) The GM2 gangliosidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2839-2879.
12. Hollack CEM, van Weely S, van Oers MHJ et al (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93: 1288-1292.
13. Hollack CEM, Aerts JMFG, Goudsmit R et al (1995) Individualised low dose alglucerase therapy for type 1 Gaucher's disease. Lancet 345: 1474-1478.
14. Keene ON (1995) The log transformation is special. Stat Med 14: 811-819.
15. Michalski JC, Montreuil J, Strecker G (1983) Primary structure of three mannosylglycoasparagines and nine sialyl-oligosaccharides isolated from the urine of two patients with Gaucher's disease (infantile form). Eur J Biochem 132: 375-381.
16. NIH Technology Assessment Panel on Gaucher Disease (1996) Gaucher disease. Current issues in diagnosis and treatment. J Am Med Assoc 275: 548-553.
17. Pastores GM, Sibille AR, Grabowski GA (1993) Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 82: 408-416.
18. Schindler D, Kanzaki T, Desnick RJ (1990) A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. Clin Chim Acta 190: 81-92.
19. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA (1993) Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 52: 1094-1101.
20. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI (1992) DNA mutation analysis of Gaucher patients. Am J Med Genet 42: 331-336.
21. Suzuki Y, Sakuraba H, Oshima A (1995) β-Galactosidase deficiency (β-galactosidosis): GM1 gangliosidosis and Morquio B disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York : McGraw-Hill, 2785-2823.
22. Theophilus B, Latham T, Grabowski GA (1989) Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet 45: 212-225.
23. Thomas GH, Beaudet AL (1995) Disorders of glycoprotein degradation and structure: α-mannosidosis, β-mannosidosis, fucosidosis, sialidosis, aspartylglucosaminuria and carbohydrate deficient glycoprotein syndrome. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York : McGraw-Hill, 2529-2561.
24. van Weely S, van Leeuwen MB, Jansen IDC et al (1991) Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. Biochim Biophys Acta 1096: 301-311.
25. Zimran A, Sorge J, Grosse E (1989) Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2: 349-352.
26. Zimran A, Kay A, Gelbart T (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 71: 337-353.