Title: FSH isoform pattern in classic galactosemia
Authors: Gubbels, Cynthia S ×
Thomas, Chris M G
Wodzig, Will K W H
Olthaar, André J
Jaeken, Jaak
Sweep, Fred C G J
Rubio-Gozalbo, M Estela #
Issue Date: Apr-2011
Publisher: MTP Press
Series Title: Journal of Inherited Metabolic Disease vol:34 issue:2 pages:387-90
Abstract: Female classic galactosemia patients suffer from primary ovarian insufficiency (POI). The cause for this long-term complication is not fully understood. One of the proposed mechanisms is that hypoglycosylation of complex molecules, a known secondary phenomenon of galactosemia, leads to FSH dysfunction. An earlier study showed less acidic isoforms of FSH in serum samples of two classic galactosemia patients compared to controls, indicating hypoglycosylation. In this study, FSH isoform patterns of five classic galactosemia patients with POI were compared to the pattern obtained in two patients with a primary glycosylation disorder (phosphomannomutase-2-deficient congenital disorders of glycosylation, PMM2-CDG) and POI, and in five postmenopausal women as controls. We used FPLC chromatofocussing with measurement of FSH concentration per fraction, and discovered that there were no significant differences between galactosemia patients, PMM2-CDG patients and postmenopausal controls. Our results do not support that FSH dysfunction due to a less acidic isoform pattern because of hypoglycosylation is a key mechanism of POI in this disease.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science