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

doi:10.1002/jimd.12177

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 for this work

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Abstract

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

Original language	English
Pages (from-to)	251-258
Number of pages	8
Journal	Journal of Inherited Metabolic Disease
Volume	43
Issue number	2
DOIs	https://doi.org/10.1002/jimd.12177
Publication status	Published - Mar-2020

Keywords

phenylketonuria
bone mineral density
bone health
dual-energy X-ray absorptiometry
OSTEOPOROSIS
CHILDREN
OSTEOPENIA
FRACTURES
MASS

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Lubout, C. M. A., Arrieta Blanco, F., Bartosiewicz, K., Feillet, F., Gizewska, M., Hollak, C., van der Lee, J. H., Maillot, F., Stepien, K. M., Wagenmakers, M. A. E. M., Welsink-Karssies, M. M., van Spronsen, F. J., & Bosch, A. M. (2020). Bone mineral density is within normal range in most adult phenylketonuria patients. Journal of Inherited Metabolic Disease, 43(2), 251-258. https://doi.org/10.1002/jimd.12177

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title = "Bone mineral density is within normal range in most adult phenylketonuria patients",

abstract = "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",

keywords = "phenylketonuria, bone mineral density, bone health, dual-energy X-ray absorptiometry, OSTEOPOROSIS, CHILDREN, OSTEOPENIA, FRACTURES, MASS",

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

year = "2020",

month = mar,

doi = "10.1002/jimd.12177",

language = "English",

volume = "43",

pages = "251--258",

journal = "Journal of Inherited Metabolic Disease",

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Lubout, CMA, Arrieta Blanco, F, Bartosiewicz, K, Feillet, F, Gizewska, M, Hollak, C, van der Lee, JH, Maillot, F, Stepien, KM, Wagenmakers, MAEM, Welsink-Karssies, MM, van Spronsen, FJ & Bosch, AM 2020, 'Bone mineral density is within normal range in most adult phenylketonuria patients', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 251-258. https://doi.org/10.1002/jimd.12177

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T1 - Bone mineral density is within normal range in most adult phenylketonuria patients

AU - Lubout, Charlotte M. A.

AU - Arrieta Blanco, Francisco

AU - Bartosiewicz, Katarzyna

AU - Feillet, Francois

AU - Gizewska, Maria

AU - Hollak, Carla

AU - van der Lee, Johanna H.

AU - Maillot, Francois

AU - Stepien, Karolina M.

AU - Wagenmakers, Margreet A. E. M.

AU - Welsink-Karssies, Mendy M.

AU - van Spronsen, Francjan J.

AU - Bosch, Annet M.

PY - 2020/3

Y1 - 2020/3

N2 - 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

AB - 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

KW - phenylketonuria

KW - bone mineral density

KW - bone health

KW - dual-energy X-ray absorptiometry

KW - OSTEOPOROSIS

KW - CHILDREN

KW - OSTEOPENIA

KW - FRACTURES

KW - MASS

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DO - 10.1002/jimd.12177

M3 - Article

SN - 0141-8955

VL - 43

SP - 251

EP - 258

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -

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

Abstract

Keywords

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