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Open AccessReview

Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

by Zaza Abidin 1 and Eileen P. Treacy 1,2,3,*
1
National Centre for Inherited Metabolic Disorders, Adult Services, Mater Misericordiae University Hospital, Dublin, Ireland
2
Department of Paediatrics, Trinity College Dublin, Dublin, Ireland
3
School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(20), 5236; https://doi.org/10.3390/ijms20205236
Received: 27 September 2019 / Revised: 14 October 2019 / Accepted: 16 October 2019 / Published: 22 October 2019
(This article belongs to the Special Issue Molecular Basis of Fertility Preservation and Restoration)
Classical galactosaemia (CG) (OMIM 230400) is a rare inborn error of galactose metabolism caused by the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12). Primary ovarian insufficiency (POI) is the most common long-term complication experienced by females with CG, presenting with hypergonadotrophic hypoestrogenic infertility affecting at least 80% of females despite new-born screening and lifelong galactose dietary restriction. In this review, we describe the hypothesized pathophysiology of POI from CG, implications of timing of the ovarian dysfunction, and the new horizons and future prospects for treatments and fertility preservation. View Full-Text
Keywords: classical galactosaemia; primary ovarian insufficiency; pathophysiology; fertility preservation classical galactosaemia; primary ovarian insufficiency; pathophysiology; fertility preservation
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Abidin, Z.; Treacy, E.P. Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia. Int. J. Mol. Sci. 2019, 20, 5236.

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