Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

Skeletal muscle metabolism during prolonged exercise in Pompe disease

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Thyroid function in COVID-19 and the association with cytokine levels and mortality

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Socioeconomic status in Danish transgender persons: a nationwide register-based cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Cholecystokinin and the hormone concept

    Research output: Contribution to journalReviewResearchpeer-review

  1. Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Muscle biopsy and MRI findings in ANO5-related myopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

OBJECTIVE: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise.

METHODS: Seven adults with Pompe disease were matched to a healthy control group (1:1). We determined (1) peak oxidative capacity (VO2peak) and (2) carbohydrate and fatty acid metabolism during submaximal exercise (33 W) for 1 h, using cycle-ergometer exercise, indirect calorimetry and stable isotopes.

RESULTS: In the patients, VO2peak was less than half of average control values; mean difference -1659 mL/min (CI: -2450 to -867, P = 0.001). However, the respiratory exchange ratio increased to >1.0 and lactate levels rose 5-fold in the patients, indicating significant glycolytic flux. In line with this, during submaximal exercise, the rates of oxidation (ROX) of carbohydrates and palmitate were similar between patients and controls (mean difference 0.226 g/min (CI: 0.611 to -0.078, P = 0.318) and mean difference 0.016 µmol/kg/min (CI: 1.287 to -1.255, P = 0.710), respectively).

CONCLUSION: Reflecting muscle weakness and wasting, Pompe disease is associated with markedly reduced maximal exercise capacity. However, glycogenolysis is not impaired in exercise. Unlike in other metabolic myopathies, skeletal muscle substrate use during exercise is normal in Pompe disease rendering exercise less complicated for e.g. medical or recreational purposes.

Original languageEnglish
JournalEndocrine Connections
Volume6
Issue number6
Pages (from-to)384-394
Number of pages11
ISSN2049-3614
DOIs
Publication statusPublished - Aug 2017

    Research areas

  • Journal Article

ID: 52120269