Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII).
GSDXIII
exercise intolerance
exercise metabolism
maximal exercise capacity
metabolic myopathy
β‐enolase deficiency
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
09
02
2021
revised:
28
04
2021
accepted:
10
05
2021
entrez:
6
9
2021
pubmed:
7
9
2021
medline:
7
9
2021
Statut:
epublish
Résumé
To investigate the in vivo skeletal muscle metabolism in patients with β-enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Three patients with GSDXIII and 10 healthy controls performed a nonischemic handgrip test as well as an incremental cycle ergometer test measuring maximal oxidative consumption (VO Patients had lower VO Patients with GSDXIII experience exercise intolerance and episodes of myoglobinuria, even to the point of needing renal dialysis, but still retain an almost normal anaerobic metabolic response to submaximal intensity exercise. In accordance with this, glucose supplementation did not improve exercise capacity. The findings show that GSDXIII, although causing episodic rhabdomyolysis, is one of the mildest metabolic myopathies affecting glycolysis.
Identifiants
pubmed: 34485019
doi: 10.1002/jmd2.12232
pii: JMD212232
pmc: PMC8411107
doi:
Types de publication
Journal Article
Langues
eng
Pagination
60-66Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no potential conflict of interest.
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