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
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Carboxylic Ester Hydrolases / metabolism
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Carnitine / metabolism*
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Carnitine O-Palmitoyltransferase / metabolism
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Cell Membrane / enzymology
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Child
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Child, Preschool
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Coenzyme A Ligases / metabolism
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Cytosol / enzymology
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Humans
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Infant
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Male
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Muscles / enzymology
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Muscular Dystrophies / metabolism*
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Palmitoyl-CoA Hydrolase / metabolism
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Repressor Proteins*
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Saccharomyces cerevisiae Proteins*
Substances
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Repressor Proteins
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Saccharomyces cerevisiae Proteins
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Carnitine O-Palmitoyltransferase
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Carboxylic Ester Hydrolases
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palmitoyl-L-carnitine hydrolase
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Palmitoyl-CoA Hydrolase
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Coenzyme A Ligases
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FAA2 protein, S cerevisiae
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long-chain-fatty-acid-CoA ligase
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Carnitine