title: Carnitine metabolism in early stages of Duchenne muscular dystrophy.
abstract: Muscle carnitine deficiency was found in 12 children affected with Duchenne muscular dystrophy (DMD), the diagnosis being made at a preclinical stage or at the beginning of the clinical symptoms. Enzymatic activities related to fatty acid transport and carnitine metabolism were studied in these patients and normal subjects: palmitoyl carnitine transferase was increased, palmitoyl carnitine hydrolase was not found in the muscle, palmitoyl coenzyme A synthetase was normal and palmitoyl coenzyme A hydrolase was increased.
mesh_terms: D002265:Carboxylic Ester Hydrolases / Q000378:metabolism; D002331:Carnitine / Q000378:metabolism*; D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D002462:Cell Membrane / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D003066:Coenzyme A Ligases / Q000378:metabolism; D003600:Cytosol / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology; D009136:Muscular Dystrophies / Q000378:metabolism*; D010170:Palmitoyl-CoA Hydrolase / Q000378:metabolism; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
chemical_list: D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D002334:Carnitine O-Palmitoyltransferase; D002265:Carboxylic Ester Hydrolases; C029629:palmitoyl-L-carnitine hydrolase; D010170:Palmitoyl-CoA Hydrolase; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase; D002331:Carnitine