Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII).
JIMD reports(2021)
摘要
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.
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关键词
GSDXIII,exercise intolerance,exercise metabolism,maximal exercise capacity,metabolic myopathy,β‐enolase deficiency
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