Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

Anjali Aggarwal; Hope Northrup; David F. Rodriguez-Buritica; S. Shahrukh Hashmi; Heather Saavedra

doi:10.1590/2326-4594-JIEMS-2021-0017

Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

Anjali Aggarwal, Hope Northrup, David F. Rodriguez-Buritica, S. Shahrukh Hashmi, Heather Saavedra

Pediatric Genetics & Metabolism

Research output: Contribution to journal › Article › peer-review

Abstract

Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake.

Original language	English (US)
Article number	e20210017
Journal	Journal of Inborn Errors of Metabolism and Screening
Volume	9
DOIs	https://doi.org/10.1590/2326-4594-JIEMS-2021-0017
State	Published - 2021

Bibliographical note

Funding Information:
This work was supported by the Center for Clinical and Translational Sciences, which is funded by National Institutes of Health Clinical and Translational Award UL1 TR000371 from the National Center for Advancing Translational Sciences. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Center for Advancing Translational Sciences or the National Institutes of Health.

Funding Information:
This work was supported by BioMarin Pharmaceutical Inc., Novato, CA.

Publisher Copyright:
© 2021, Latin American Society Inborn Errors and Neonatal Screening. All rights reserved.

Keywords

Bone mineral density
PAH deficiency
PKU
Phenylalanine
Phenylketonuria

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10.1590/2326-4594-JIEMS-2021-0017

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abstract = "Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake.",

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note = "Funding Information: This work was supported by the Center for Clinical and Translational Sciences, which is funded by National Institutes of Health Clinical and Translational Award UL1 TR000371 from the National Center for Advancing Translational Sciences. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Center for Advancing Translational Sciences or the National Institutes of Health. Funding Information: This work was supported by BioMarin Pharmaceutical Inc., Novato, CA. Publisher Copyright: {\textcopyright} 2021, Latin American Society Inborn Errors and Neonatal Screening. All rights reserved.",

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AU - Aggarwal, Anjali

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AU - Rodriguez-Buritica, David F.

AU - Hashmi, S. Shahrukh

AU - Saavedra, Heather

N1 - Funding Information: This work was supported by the Center for Clinical and Translational Sciences, which is funded by National Institutes of Health Clinical and Translational Award UL1 TR000371 from the National Center for Advancing Translational Sciences. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Center for Advancing Translational Sciences or the National Institutes of Health. Funding Information: This work was supported by BioMarin Pharmaceutical Inc., Novato, CA. Publisher Copyright: © 2021, Latin American Society Inborn Errors and Neonatal Screening. All rights reserved.

PY - 2021

Y1 - 2021

N2 - Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake.

AB - Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake.

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Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

Abstract

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