Bone health in classic galactosemia: Systematic review and meta-analysis

Britt van Erven, Lindsey Welling, Sandra C. van Calcar, Artemis Doulgeraki, François Eyskens, Joanna Gribben, Eileen P. Treacy, Rein Vos, Susan E. Waisbren, M. Estela Rubio-Gozalbo, Annet M. Bosch

Research output: Chapter in Book/Report/Conference proceedingChapter

22 Scopus citations


Introduction: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤−2 standard deviations (SD). The secondary objective was to evaluate other indicators of bone status through a descriptive analysis. Methods: Systematic search strategies were developed by an experienced clinical librarian. Selection of relevant manuscripts, risk of bias assessment, and data extraction were performed independently by two investigators. Results: Four studies were included in the meta-analysis. BMD Z-scores in children and adults with CG measured at the lumbar spine (LBMD; 4 studies; n = 112), total hip (HBMD; 2 studies; n = 58), and femoral neck (FBMD; 2 studies; n = 73) were assessed. Mean BMD Z-scores in the CG population were LBMD −0.70 (95% CI: −0.88, −0.52); HBMD −0.89 (95% CI: −1.14, −0.64); and FBMD −0.63 (95% CI −1.29, 0.02). Results from studies included in the descriptive analysis (n = 7) show that vitamin D levels were frequently in the low reference range, whereas serum calcium levels were within reference range. Conclusion: The mean BMD Z-score in the CG population is −0.7, which is lower than in the general population, though still within two SD of the reference mean of zero. This indicates that bone health is mildly affected in CG and that more patients, compared to the general population, are at risk for a BMD Z-score ≤−2 SD. In conclusion, clinicians should ensure appropriate preventive and therapeutic measures for CG patients.

Original languageEnglish (US)
Title of host publicationJIMD Reports
Number of pages10
StatePublished - 2017

Publication series

NameJIMD Reports
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312


  • Bone mass
  • Bone mineral density
  • Bone turnover markers
  • Classic galactosemia
  • DXA
  • GALT deficiency
  • Vitamin D

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)


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