ArticleJournal of inherited metabolic disease2017
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 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
- 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
- No Impairment in Bone Turnover or Executive Functions in Well-Treated Preschoolers with Phenylketonuria-A Pilot Study.Nutrients · 2024Article
- Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.Molecular genetics and metabolism reports · 2023Article
- 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
- Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia.Endocrine connections · 2020Article
- Bone mineral density is within normal range in most adult phenylketonuria patients.Journal of inherited metabolic disease · 2020Article
- Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).Molecular Frontiers journal · 2019Article
- Sex effects of dietary protein source and acid load on renal and bone status in the PahPhysiological reports · 2019Article
- Sex differences in body composition and bone mineral density in phenylketonuria: A cross-sectional study.Molecular genetics and metabolism reports · 2018Article
- Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria.Journal of nutrition and metabolism · 2017Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Bone disease in patients with phenylketonuria (PKU) is incompletely characterized. We therefore analyzed, in a cross-sectional study radius macroscopic bone architecture and forearm muscle size by peripheral quantitative computed tomography (pQCT) and muscle strength by hand dynamometry in a large cohort (n = 56) of adolescent and adult patients with PKU aged 26.0 ± 8.9 (range, 11.8-41.5) years. Data were compared with a reference population (n = 700) from the DONALD study using identical methodology. We observed a significant reduction of cortical thickness (z-score -1.01 ± 0.79), Strength-Strain Index (SSI) (z-score -0.81 ± 1.03), and total bone mineral density (BMD) of the distal radius (z-score -1.05 ± 1.00). Mean muscle cross-sectional area (z-score -0.98 ± 1.19) and muscle grip force (z-score -0.64 ± 1.26) were also significantly reduced, indicating an impaired muscular system as part of the clinical phenotype of PKU. SSI positively correlated (r = 0.53, P < 0.001) with the corresponding muscle cross-sectional area in the reference population; however, the regression line slope in PKU patients was less steep (P < 0.001), indicating that bone strength is not adequately adapted to muscle force. In conclusion, the radial bone in PKU patients is characterized by reduced bone strength in relation to muscular force, decreased cortical thickness, and impaired total BMD at the metaphyseal site. These alterations indicate a mixed bone defect in PKU, both of which are due to primary alterations of bone metabolism and to secondary alterations in response to neuromuscular abnormalities.
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