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 journalArticlepeer-review

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 languageEnglish (US)
Article number100675
JournalMolecular Genetics and Metabolism Reports
Volume25
DOIs
StatePublished - Dec 2020
Externally publishedYes

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

PubMed: MeSH publication types

  • Journal Article

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