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

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4 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
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

Keywords

Amino acid
Barth syndrome
Metabolism
Mitochondria

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10.1016/j.ymgmr.2020.100675

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@article{07a275d83d154fc8966035d7fcfa7572,

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 = "Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = dec,

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

language = "English",

volume = "25",

journal = "Molecular Genetics and Metabolism Reports",

issn = "2214-4269",

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TY - JOUR

T1 - Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

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.

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.

KW - Amino acid

KW - Barth syndrome

KW - Metabolism

KW - Mitochondria

UR - http://www.scopus.com/inward/record.url?scp=85096225985&partnerID=8YFLogxK

U2 - 10.1016/j.ymgmr.2020.100675

DO - 10.1016/j.ymgmr.2020.100675

M3 - Article

C2 - 33204638

AN - SCOPUS:85096225985

SN - 2214-4269

VL - 25

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

M1 - 100675

ER -

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

Abstract

Keywords

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