FSH isoform pattern in classic galactosemia

Journal of Inherited Metabolic Disease

Volumn 34, Issue 2, 2011, Pages 387-390

  Gubbels, Cynthia S ^a   Thomas, Chris M G ^b   Wodzig, Will K W H ^a   Olthaar, André J ^b   Jaeken, Jaak ^c   Sweep, Fred C G J ^b   Rubio Gozalbo, M Estela ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN;

ADULT; AGED; ARTICLE; CHROMATOFOCUSING; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; FAST PROTEIN LIQUID CHROMATOGRAPHY; FEMALE; GALACTOSEMIA; HUMAN; PHOSPHOMANNOMUTASE 2 DEFICIENCY; POSTMENOPAUSE; PREMATURE OVARIAN FAILURE;

AGED; CASE-CONTROL STUDIES; CHROMATOGRAPHY; FEMALE; FOLLICLE STIMULATING HORMONE; GALACTOSEMIAS; GLYCOSYLATION; HUMANS; HYDROGEN-ION CONCENTRATION; MIDDLE AGED; POSTMENOPAUSE; PRIMARY OVARIAN INSUFFICIENCY; PROTEIN ISOFORMS;

EID: 79955681819     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9180-9     Document Type: Article

References (18)

1. Charlwood J, Clayton P, Keir G, Mian N, Winchester B (1998) Defective galactosylation of serum transferrin in galactosemia. Glycobiology 8(4):351-357 (Pubitemid 28186634)
2. Dalpathado DS, Irungu J, Go EP et al. (2006) Comparative glycomics of the glycoprotein follicle stimulating hormone: glycopeptide analysis of isolates from two mammalian species. Biochemistry 45(28):8665-8673 (Pubitemid 44078887)
3. de Zegher F, Jaeken J (1995) Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res 37(4 Pt 1):395-401
4. Dobbie JA, Holton JB, Clamp JR (1990) Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients. Ann Clin Biochem 27(Pt 3):274-275 (Pubitemid 20155129)
5. Haberland C, Perou M, Brunngraber EG, Hof H (1971) The neuropathology of galactosemia. A histopathological and biochemical study. J Neuropathol Exp Neurol 30(3):431-447
6. Jaeken J, Kint J, Spaapen L (1992) Serum lysosomal enzyme abnormalities in galactosaemia. Lancet 340(8833):1472-1473
7. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R (1981) Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 304 (17):994-998 (Pubitemid 11156606)
8. Kristiansson B, Stibler H, Wide L (1995) Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr 84(6):655-659
9. Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ (2003) GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology 13(4):285-294 (Pubitemid 36592315)
10. Menezo YJ, Lescaille M, Nicollet B, Servy EJ (2004) Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report. J Assist Reprod Genet 21(3):89-90 (Pubitemid 39023455)
11. Ng WG, Xu YK, Kaufman FR, Donnell GN (1989) Deficit of uridine diphosphate galactose in galactosaemia. J Inherit Metab Dis 12 (3):257-266 (Pubitemid 19253244)
12. Ornstein KS, McGuire EJ, Berry GT, Roth S, Segal S (1992) Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res 31(5):508-511
13. Petry K, Greinix HT, Nudelman E et al (1991) Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem Med Metab Biol 46(1):93-104
14. Prestoz LL, Couto AS, Shin YS, Petry KG (1997) Altered follicle stimulating hormone isoforms in female galactosaemia patients. Eur J Pediatr 156(2):116-120 (Pubitemid 27049155)
15. Sanders RD, Spencer JB, Epstein MP et al (2008) Biomarkers of ovarian function in girls and women with classic galactosemia. Fertil Steril doi:10.1016/j.fertnstert.2008.04.060
16. Stibler H, von Döbeln U, Kristiansson B, Guthenberg C (1997) Carbohydrate-deficient transferrin in galactosaemia. Acta Paediatr 86(12):1377-1378 (Pubitemid 28051521)
17. Sturiale L, Barone R, Fiumara A et al (2005) Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 15(12):1268-1276 (Pubitemid 41724331)
18. Thomas CMG, Span PN, Smeenk JMJ, Hanssen RGJM, Braat DDM, Sweep FCGJ (2009) Occurrence of postmenopausal-like acidic follicle-stimulating hormone (FSH) isoforms precedes the rise of FSH before menopause. Fertil Steril 92(2):613-619