SynthesisOrphanet journal of rare diseases2015
Bone health in phenylketonuria: a systematic review and meta-analysis.
Synthesis in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 4 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it, 106 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
- OVERWEIGHT AND ASSOCIATED FACTORS IN CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA: A SYSTEMATIC REVIEW.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2020Pooled it
- Article
- Observational
- Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation.Children (Basel, Switzerland) · 2026Article
- Oral Health Status of Children and Adolescents With Phenylketonuria: A Case-Control Study.Health science reports · 2026Article
- Children's health: insights from space medicine on metabolic health.NPJ microgravity · 2025Review
- Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.Metabolites · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Article
- Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency.Frontiers in endocrinology · 2025Article
- Editorial: Endocrine imbalances of mineral ions and vitamins in chronic disease pathogenesis.Frontiers in endocrinology · 2025Article
- Article
- No Impairment in Bone Turnover or Executive Functions in Well-Treated Preschoolers with Phenylketonuria-A Pilot Study.Nutrients · 2024Article
- Association of serum levels of phenylalanine and tyrosine with hip fractures and frailty in older adults: The cardiovascular health study.Archives of osteoporosis · 2024Article
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.Molecular genetics and metabolism reports · 2023Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and significance of low BMD in early treated patients with PKU. Secondary aims were to assess other bone status indicators including bone turnover markers (BTM) and to define areas for future research. Two research teams (Amsterdam, Netherlands and Atlanta, USA) performed literature searches for articles reporting data on BMD, osteopenia and osteoporosis, BTM or other bone indicators in patients with PKU. Included articles were compared between research teams and assessed for quality and risk of bias. A total of 13 unique articles were included; 11/13 articles reported BMD including a total of 360 patients. Ten out of 11 articles found BMD was significantly lower in patients with PKU. Meta-analyses for total BMD (TBMD; 3 studies; n = 133), lumbar spine BMD (LBMD; 7 studies; n = 247), and femoral neck BMD (FBMD; 2 studies; n = 78) Z-scores were performed. Overall effect sizes were: TBMD -0.45 (95% CI -0.61, -0.28); LBMD -0.70 (95% CI -0.82, -0.57); FBMD -0.96 (95% CI -1.42, -0.49). Definitions of osteopenia and osteoporosis were highly heterogeneous between studies and did not align with World Health Organization standards and the International Society for Clinical Densitometry positions on BMD measurement. Despite individual study findings of low BMD indicating higher risk of osteoporosis, pooled available data suggest reduction in BMD is not clinically important when using standard definitions of low BMD. Results from studies evaluating BTM are inconclusive. Phenylalanine concentration, vitamin D, PTH, and nutrient intake do not correlate with BMD or BTM. We recommend forthcoming studies use standard definitions of low BMD to determine clinical implications of BMD Z-scores below 0, explore cause of low BMD in the subset of patients with low BMD for chronological age (Z-score < -2) and assess fracture risk in patients with PKU.
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Registered trials
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