ArticleMolecular genetics and metabolism reports2023
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.
Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 9 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
- Article
- Observational
- Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.Orphanet journal of rare diseases · 2026Article
- Children's health: insights from space medicine on metabolic health.NPJ microgravity · 2025Review
- Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance.International journal of molecular sciences · 2025Article
- The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.Orphanet journal of rare diseases · 2025Review
- Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency.Frontiers in endocrinology · 2025Article
- The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.Nutrients · 2024Article
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).Molecular genetics and metabolism reports · 2024Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Dietary intervention is to date the mainstay treatment to prevent toxic phenylalanine (Phe) accumulation in PKU patients. Despite success preventing central nervous system damage, there is increasing evidence of possible other unfavorable outcomes affecting other systems, e.g. kidney and bone; underlying mechanisms are yet to be fully elucidated. Methods: This observational, cross-sectional and descriptive study investigated 20 adult with PKU evaluating biochemical parameters, BMD measurements and extrapolating data from 3-days food records and protein substitutes (PS) and special low protein foods (SLPF) composition. Results: Blood gas venous analysis (VBG) indices were indicative of metabolic acidosis in 60% of PKU patients and VBG pH significantly correlated with BMD's Discussion: PKU patients seem to be at risk of metabolic acidosis, directly linked to possible low bone mineralization. This may be related to the acidic composition of PS, potentially capable of acidifying the entire diet. Reported low intakes of potassium and magnesium may be relevant to these observations. Further studies are needed to better address these topics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.