Abstract
A 27-year-old caucasian female with classical galactosaemia due to Q188R homozygous mutation is reported. At 18 years she had triplets and at 23 years a further pregnancy. All infants are well.
Similar content being viewed by others
REFERENCES
Briones P, Giros M, Martinez V (2001) Second spontaneous pregnancy in a galactosemic woman homozygous for the Q188R mutation. J Inherit Metab Dis 24: 79-80.
Gibson J (1995) Gonadal function in galactosemics and in galactose-intoxicated animals. Eur J Pediatr 154(supplement 2): S14-S20.
Kaufman FR, Xu YK, Ng WG, Donnell GN (1988) Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr 112: 754-756.
Sauer MV, Kaufman FR, Paulson R, Lobo R (1991) Pregnancy after oocyte donation to a woman with ovarian failure and classic galactosemia. fertility and Sterility 55: 1197-1199.
Waggoner, DD, Buist NRM, Donnell GN (1990) Long term prognosis in galactosemia: results of a survey of 350 cases. J Inherit Metab Dis 13: 802-818.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kimonis, V. Increased fertility in a woman with classic galactosaemia. J Inherit Metab Dis 24, 507–608 (2001). https://doi.org/10.1023/A:1012432231353
Issue Date:
DOI: https://doi.org/10.1023/A:1012432231353