Document Detail

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
MedLine Citation:
PMID:  15622536     Owner:  NLM     Status:  MEDLINE    
Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. It has been suggested that carriers of CPT2 gene mutations also may have milder clinical symptoms, but fatty acid oxidation (FAO) has never been investigated in vivo in this group. We studied fuel utilization by indirect calorimetry and stable isotope methodology in four patients with CPT II deficiency, three subjects who carried one CPT2 gene mutation, and five healthy control subjects. Cycle exercise at a constant workload of 50% of maximal oxygen uptake capacity was used to facilitate FAO. We found that in vivo oxidation of long-chain fatty acids was normal at rest but severely impaired during prolonged, low-intensity exercise in patients with CPT II deficiency, and that two of the single CPT2 gene mutation carriers, who displayed symptoms of CPT II deficiency, had an FAO comparable with the patients. These results indicate that residual CPT II activity is sufficient to maintain long-chain FAO at rest in CPT II deficiency but not to increase FAO during exercise. The findings also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein.
Mette C Ørngreen; Morten Dunø; Rasmus Ejstrup; Ernst Christensen; Marianne Schwartz; Massimo Sacchetti; John Vissing
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Annals of neurology     Volume:  57     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2005-01-03     Completed Date:  2005-03-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  60-6     Citation Subset:  IM    
Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
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MeSH Terms
Alanine / blood
Blood Glucose / metabolism
Calorimetry / methods
Carnitine O-Palmitoyltransferase / genetics,  physiology*
DNA Mutational Analysis / methods
Energy Metabolism / physiology*
Exercise Test / methods
Fatty Acids / blood
Heart Rate / genetics
Hormones / blood
Isotopes / metabolism
Lactic Acid / blood
Middle Aged
Muscular Diseases / blood,  genetics*,  physiopathology*
Oxygen / blood
Reg. No./Substance:
0/Blood Glucose; 0/Fatty Acids; 0/Hormones; 0/Isotopes; 50-21-5/Lactic Acid; 56-41-7/Alanine; 7782-44-7/Oxygen; EC O-Palmitoyltransferase

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