Bone mineral density is within normal range in most adult phenylketonuria patients.,Journal of Inherited Metabolic Disease

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Bone mineral density is within normal range in most adult phenylketonuria patients.
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-02-06 , DOI: 10.1002/jimd.12177
Charlotte M A Lubout ₁ , Francisco Arrieta Blanco ₂ , Katarzyna Bartosiewicz ₃ , François Feillet ₄ , Maria Gizewska ₃ , Carla Hollak ₅ , Johanna H van der Lee ₆ , François Maillot ₇ , Karolina M Stepien ₈ , Margreet A E M Wagenmakers ₉ , Mendy M Welsink-Karssies ₁ , Francjan J van Spronsen ₁₀ , Annet M Bosch ₁

Affiliation

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC - Location AMC, Amsterdam, The Netherlands.
Servicio de Endocrinología y Nutrición, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Szczecin, Poland.
Department of Pediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Nancy, France.
Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC - Location AMC, Amsterdam, The Netherlands.
Pediatric Clinical Research Office, Woman-Child Center, Amsterdam UMC - Location AMC, Amsterdam, The Netherlands.
Service de Médecine Interne, CHRU de Tours, Université de Tours, UMR INSERM, Tours, France.
Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
Center for lysosomal and metabolic disease, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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 <-2) was at maximum 5.5%. No risk factors for low BMD in PKU patients could be identified. Low BMD occurs only in a small subset of PKU patients. DXA scans should be considered for well controlled patients from age 35-40 years and up and on indication in those PKU patients considered to be at increased risk for fractures.

更新日期：2020-02-06

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