Bone mineral density is within normal range in most adult phenylketonuria patients

Charlotte M. A. Lubout, Francisco Arrieta Blanco, Katarzyna Bartosiewicz, Francois Feillet, Maria Gizewska, Carla Hollak, Johanna H. van der Lee, Francois Maillot, Karolina M. Stepien, Margreet A. E. M. Wagenmakers, Mendy M. Welsink-Karssies, Francjan J. van Spronsen, Annet M. Bosch*

*Corresponding author voor dit werk

OnderzoeksoutputAcademicpeer review

7 Citaten (Scopus)
92 Downloads (Pure)


Low bone mineral density (BMD) as a risk factor for fractures has been a long-standing concern in phenylketonuria (PKU). It is hypothesised that the disease itself or the dietary treatment might lead to a low BMD. Previous studies show conflicting results of BMD in PKU due to differences in age, techniques to assess BMD and criteria used. To assess the prevalence of low BMD and define possible risk factors in a large number of adult, early treated PKU (ETPKU) patients. European centres were invited for a survey, collecting retrospective data including results of dual-energy X-ray absorptiometry (DXA) scans of adult ETPKU patients. BMD of 183 adult ETPKU patients aged 18-46 (median age 28, all females premenopausal) years was lower than in the general population at most skeletal sites but the frequency of low BMD (Z-score

Originele taal-2English
Pagina's (van-tot)251-258
Aantal pagina's8
TijdschriftJournal of Inherited Metabolic Disease
Nummer van het tijdschrift2
StatusPublished - mrt.-2020


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