Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

We investigated the in vivo skeletal muscle metabolism in patients with multiple acyl-CoA dehydrogenase deficiency (MADD) during exercise, and the effect of a glucose infusion. Two adults with MADD on riboflavin and l-carnitine treatment and 10 healthy controls performed an incremental exercise test measuring maximal oxidative capacity (VO2max) and a submaximal exercise test (≤1 hour) on a cycle ergometer. During submaximal exercise, we studied fat and carbohydrate oxidation, using stable isotope tracer methodology and indirect calorimetry. On another day, the patients repeated the submaximal exercise receiving a 10% glucose infusion. The patients had a lower VO2max than controls and stopped the submaximal exercise test at 51 and 58 minutes due to muscle pain and exhaustion. The exercise-induced increase in total fatty acid oxidation was blunted in the patients (7.1 and 1.1 vs 12 ± 4 μmol × kg-1 × min-1 in the healthy controls), but total carbohydrate oxidation was higher (67 and 63 vs 25 ± 11 μmol × kg-1 × min-1 in controls). With glucose infusion, muscle pain decreased and average heart rate during exercise dropped in both patients from 124 to 119 bpm and 138 to 119 bpm. We demonstrate that exercise intolerance in MADD-patients relates to an inability to increase fat oxidation appropriately during exercise, which is compensated partially by an increase in carbohydrate metabolism.

OriginalsprogEngelsk
TidsskriftJIMD Reports
Vol/bind46
Udgave nummer1
Sider (fra-til)79-84
Antal sider6
ISSN2192-8304
DOI
StatusUdgivet - mar. 2019

ID: 58109704