Low bone mineral density is a common finding in patients with homocystinuria

David R. Weber, Curtis Coughlin, Jill L. Brodsky, Kristin Lindstrom, Can Ficicioglu, Paige Kaplan, Cynthia L. Freehauf, Michael A. Levine

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)351-354
Number of pages4
JournalMolecular Genetics and Metabolism
Volume117
Issue number3
DOIs
StatePublished - Mar 1 2016
Externally publishedYes

Fingerprint

Homocystinuria
Bone Density
Minerals
Bone
Photon Absorptiometry
Homocysteine
Methionine
Linear Models
Spine
X rays
Cystathionine beta-Synthase
Bone Diseases
Thromboembolism
Cystathionine
Osteoporosis
Ligases
Linear regression
Bone and Bones
Health
Plasmas

Keywords

  • Bone mineral density
  • Dual energy X-ray absorptiometry
  • Homocystinuria
  • Osteoporosis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Weber, D. R., Coughlin, C., Brodsky, J. L., Lindstrom, K., Ficicioglu, C., Kaplan, P., ... Levine, M. A. (2016). Low bone mineral density is a common finding in patients with homocystinuria. Molecular Genetics and Metabolism, 117(3), 351-354. https://doi.org/10.1016/j.ymgme.2015.12.003

Low bone mineral density is a common finding in patients with homocystinuria. / Weber, David R.; Coughlin, Curtis; Brodsky, Jill L.; Lindstrom, Kristin; Ficicioglu, Can; Kaplan, Paige; Freehauf, Cynthia L.; Levine, Michael A.

In: Molecular Genetics and Metabolism, Vol. 117, No. 3, 01.03.2016, p. 351-354.

Research output: Contribution to journalArticle

Weber, DR, Coughlin, C, Brodsky, JL, Lindstrom, K, Ficicioglu, C, Kaplan, P, Freehauf, CL & Levine, MA 2016, 'Low bone mineral density is a common finding in patients with homocystinuria', Molecular Genetics and Metabolism, vol. 117, no. 3, pp. 351-354. https://doi.org/10.1016/j.ymgme.2015.12.003
Weber DR, Coughlin C, Brodsky JL, Lindstrom K, Ficicioglu C, Kaplan P et al. Low bone mineral density is a common finding in patients with homocystinuria. Molecular Genetics and Metabolism. 2016 Mar 1;117(3):351-354. https://doi.org/10.1016/j.ymgme.2015.12.003
Weber, David R. ; Coughlin, Curtis ; Brodsky, Jill L. ; Lindstrom, Kristin ; Ficicioglu, Can ; Kaplan, Paige ; Freehauf, Cynthia L. ; Levine, Michael A. / Low bone mineral density is a common finding in patients with homocystinuria. In: Molecular Genetics and Metabolism. 2016 ; Vol. 117, No. 3. pp. 351-354.
@article{65f1e245ed794fc59f80c0c5258cc3b1,
title = "Low bone mineral density is a common finding in patients with homocystinuria",
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.",
keywords = "Bone mineral density, Dual energy X-ray absorptiometry, Homocystinuria, Osteoporosis",
author = "Weber, {David R.} and Curtis Coughlin and Brodsky, {Jill L.} and Kristin Lindstrom and Can Ficicioglu and Paige Kaplan and Freehauf, {Cynthia L.} and Levine, {Michael A.}",
year = "2016",
month = "3",
day = "1",
doi = "10.1016/j.ymgme.2015.12.003",
language = "English (US)",
volume = "117",
pages = "351--354",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Low bone mineral density is a common finding in patients with homocystinuria

AU - Weber, David R.

AU - Coughlin, Curtis

AU - Brodsky, Jill L.

AU - Lindstrom, Kristin

AU - Ficicioglu, Can

AU - Kaplan, Paige

AU - Freehauf, Cynthia L.

AU - Levine, Michael A.

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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.

AB - 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.

KW - Bone mineral density

KW - Dual energy X-ray absorptiometry

KW - Homocystinuria

KW - Osteoporosis

UR - http://www.scopus.com/inward/record.url?scp=84959560603&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84959560603&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2015.12.003

DO - 10.1016/j.ymgme.2015.12.003

M3 - Article

C2 - 26689745

AN - SCOPUS:84959560603

VL - 117

SP - 351

EP - 354

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -