Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

W. Todd Cade; Kathryn L. Bohnert; Adam J. Bittel; Shaji J. Chacko; Bruce W. Patterson; Christina A. Pacak; Barry J. Byrne; Hilary J. Vernon; Dominic N. Reeds

doi:10.1016/j.ymgmr.2020.100675

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds

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

3 Scopus citations

Abstract

Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism. This pilot study characterized whole-body arginine kinetics and found lower arginine rate of appearance into plasma (0.69 ± 0.09 vs. 0.88 ± 0.06 μmol/kgFFM/min, p < 0.01) and arginine non-oxidative disposal rate (0.64 ± 0.11 vs. 0.80 ± 0.03 μmol/kgFFM/min, p < 0.02) in adolescents and young adults with BTHS compared to Controls. This study provides a foundation for more in-depth studies on how arginine and potentially other amino acid abnormalities contribute to the pathology and clinical manifestations of BTHS.

Original language	English (US)
Article number	100675
Journal	Molecular Genetics and Metabolism Reports
Volume	25
DOIs	https://doi.org/10.1016/j.ymgmr.2020.100675
State	Published - Dec 2020
Externally published	Yes

Bibliographical note

Funding Information:
This work was supported by the Barth Syndrome Foundation and National Institutes of HealthR01HL107406-01, R01HL136759, P30DK056341, P30DK020579, HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research.

Funding Information:
This work was supported by the Barth Syndrome Foundation and National Institutes of Health R01HL107406-01 , R01HL136759 , P30DK056341 , P30DK020579 , HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research.

Publisher Copyright:
© 2020

Keywords

Amino acid
Barth syndrome
Metabolism
Mitochondria

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title = "Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome",

abstract = "Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism. This pilot study characterized whole-body arginine kinetics and found lower arginine rate of appearance into plasma (0.69 ± 0.09 vs. 0.88 ± 0.06 μmol/kgFFM/min, p < 0.01) and arginine non-oxidative disposal rate (0.64 ± 0.11 vs. 0.80 ± 0.03 μmol/kgFFM/min, p < 0.02) in adolescents and young adults with BTHS compared to Controls. This study provides a foundation for more in-depth studies on how arginine and potentially other amino acid abnormalities contribute to the pathology and clinical manifestations of BTHS.",

keywords = "Amino acid, Barth syndrome, Metabolism, Mitochondria",

author = "Cade, {W. Todd} and Bohnert, {Kathryn L.} and Bittel, {Adam J.} and Chacko, {Shaji J.} and Patterson, {Bruce W.} and Pacak, {Christina A.} and Byrne, {Barry J.} and Vernon, {Hilary J.} and Reeds, {Dominic N.}",

note = "Funding Information: This work was supported by the Barth Syndrome Foundation and National Institutes of HealthR01HL107406-01, R01HL136759, P30DK056341, P30DK020579, HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Funding Information: This work was supported by the Barth Syndrome Foundation and National Institutes of Health R01HL107406-01 , R01HL136759 , P30DK056341 , P30DK020579 , HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Publisher Copyright: {\textcopyright} 2020",

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doi = "10.1016/j.ymgmr.2020.100675",

language = "English (US)",

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journal = "Molecular Genetics and Metabolism Reports",

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AU - Cade, W. Todd

AU - Bohnert, Kathryn L.

AU - Bittel, Adam J.

AU - Chacko, Shaji J.

AU - Patterson, Bruce W.

AU - Pacak, Christina A.

AU - Byrne, Barry J.

AU - Vernon, Hilary J.

AU - Reeds, Dominic N.

N1 - Funding Information: This work was supported by the Barth Syndrome Foundation and National Institutes of HealthR01HL107406-01, R01HL136759, P30DK056341, P30DK020579, HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Funding Information: This work was supported by the Barth Syndrome Foundation and National Institutes of Health R01HL107406-01 , R01HL136759 , P30DK056341 , P30DK020579 , HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Publisher Copyright: © 2020

PY - 2020/12

Y1 - 2020/12

N2 - Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism. This pilot study characterized whole-body arginine kinetics and found lower arginine rate of appearance into plasma (0.69 ± 0.09 vs. 0.88 ± 0.06 μmol/kgFFM/min, p < 0.01) and arginine non-oxidative disposal rate (0.64 ± 0.11 vs. 0.80 ± 0.03 μmol/kgFFM/min, p < 0.02) in adolescents and young adults with BTHS compared to Controls. This study provides a foundation for more in-depth studies on how arginine and potentially other amino acid abnormalities contribute to the pathology and clinical manifestations of BTHS.

AB - Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism. This pilot study characterized whole-body arginine kinetics and found lower arginine rate of appearance into plasma (0.69 ± 0.09 vs. 0.88 ± 0.06 μmol/kgFFM/min, p < 0.01) and arginine non-oxidative disposal rate (0.64 ± 0.11 vs. 0.80 ± 0.03 μmol/kgFFM/min, p < 0.02) in adolescents and young adults with BTHS compared to Controls. This study provides a foundation for more in-depth studies on how arginine and potentially other amino acid abnormalities contribute to the pathology and clinical manifestations of BTHS.

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KW - Metabolism

KW - Mitochondria

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Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

Abstract

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Keywords

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