ArticleJournal of inherited metabolic disease2020
Bone mineral density is within normal range in most adult phenylketonuria patients.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 3 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 3 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Meta-analysis of bone mineral density in adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Pooled it
- Article
- Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance.International journal of molecular sciences · 2025Article
- Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency.Frontiers in endocrinology · 2025Article
- Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria.Molecular genetics and metabolism reports · 2024Article
- No Impairment in Bone Turnover or Executive Functions in Well-Treated Preschoolers with Phenylketonuria-A Pilot Study.Nutrients · 2024Article
- Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.Orphanet journal of rare diseases · 2020Review
- Reply to Jakovac; Severity of COVID-19 infection in patients with phenylketonuria: is vitamin D status protective?American journal of physiology. Endocrinology and metabolism · 2020Article
- Bone mineral density is within normal range in most adult phenylketonuria patients.Journal of inherited metabolic disease · 2020Article
Corrections and comments
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Authors and funding
13 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
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 <-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.
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