- Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?
Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Electronic address
Mol Genet Metab 109:14-20. 2013
..A proportion of the skeletal muscle symptoms in GSD IIIa, i.e. weakness and fatigue, may be related to insufficient energy production in muscle...
- Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Mol Genet Metab 107:462-8. 2012
..Thus, it appears that acid alpha-glucosidase does not play a significant role in the production of energy in skeletal muscle during exercise...
- Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)
Neuromuscular Research Unit 3342, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
Neurology 72:317-23. 2009
..This defect causes motor neuron death, but considering the important function of androgens in muscle, it is possible that muscle damage in SBMA also occurs independently of motor neuron damage...
- Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, Denmark
Neurology 78:265-8. 2012
..To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD)...
- Fat metabolism during exercise in patients with McArdle disease
M C Ørngreen
Neuromuscular Research Unit, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Neurology 72:718-24. 2009
..We questioned whether patients with McArdle disease can compensate for the blocked muscle glycogen breakdown by enhancing fat oxidation during exercise...
- Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation
K L Madsen
Neuromuscular Research Unit 3342, Rigshospitalet, University of Copenhagen, DK 2100 Copenhagen E, Denmark
J Clin Endocrinol Metab 98:1667-75. 2013
..The use of carnitine supplementation in MCADD cannot be supported by the present findings...