ArticleMolecular genetics and metabolism2016
Low bone mineral density is a common finding in patients with homocystinuria.
Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Delay in Diagnosis of Classical Homocystinuria.JIMD reports · 2026Article
- Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports · 2026Review
- High clinical burden of classical homocystinuria in the United States: a retrospective analysis.Orphanet journal of rare diseases · 2025Article
- Nutrition-Based Support for Osteoporosis in Postmenopausal Women: A Review of Recent Evidence.International journal of women's health · 2024Review
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Article
- Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.Children (Basel, Switzerland) · 2023Article
- Osteoporosis in children and adolescents: when to suspect and how to diagnose it.European journal of pediatrics · 2022Review
- Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.BMC ophthalmology · 2021Article
- Bone Health in Childhood Chronic Disease.Endocrinology and metabolism clinics of North America · 2020Review
- Hyperhomocysteinemia is Associated with Inflammation, Bone Resorption, Vitamin B12 and Folate Deficiency and MTHFR C677T Polymorphism in Postmenopausal Women with Decreased Bone Mineral Density.International journal of environmental research and public health · 2020Article
- When Low Bone Mineral Density and Fractures Is Not Osteoporosis.Current osteoporosis reports · 2019Review
- The Effects of Homocysteine on the Skeleton.Current osteoporosis reports · 2018Review
- Bone health in patients with inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
Homocystinuria (HCU) due to deficiency of cystathionine beta-synthetase is associated with increased plasma levels of homocysteine and methionine and is characterized by developmental delay, intellectual impairment, ocular defects, thromboembolism and skeletal abnormalities. HCU has been associated with increased risk for osteoporosis in some studies, but the natural history of HCU-related bone disease is poorly understood. The objective of this study was to characterize bone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) in a multi-center, retrospective cohort of children and adults with HCU. We identified 19 subjects (9 males) aged 3.5 to 49.2 years who had DXA scans performed as a part of routine clinical care from 2002-2010. The mean lumbar spine (LS) BMD Z-score at the time of first DXA scan in this cohort was -1.2 (± SD of 1.3); 38% of participants had low BMD for age (as defined by a Z-score ≤-2). Homocysteine and methionine were positively associated with LS BMD Z-score in multiple linear regression models. Our findings suggest that low BMD is common in both children and adults with HCU and that routine assessment of bone health in this patient population is warranted. Future studies are needed to clarify the relationship between HCU and BMD.
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Registered trials
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