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) |
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Article number | 100675 |
Journal | Molecular Genetics and Metabolism Reports |
Volume | 25 |
DOIs | |
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
PubMed: MeSH publication types
- Journal Article