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

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 languageEnglish
Article number100675
JournalMolecular Genetics and Metabolism Reports
Volume25
DOIs
StatePublished - Dec 2020

Keywords

  • Amino acid
  • Barth syndrome
  • Metabolism
  • Mitochondria

Fingerprint

Dive into the research topics of 'Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome'. Together they form a unique fingerprint.

Cite this