Biomaterial Database

Myopathies caused by disorders of lipid metabolism. 1988

J E Carroll

Department of Neurology, Medical College of Georgia, Augusta.

Myopathies due to abnormalities in fatty acid oxidation fall into several clinical categories. Rhabdomyolysis occurring with prolonged stress on the muscle is frequently found to be caused by carnitine palmityl transferase deficiency. The association of systemic metabolic derangements and muscle weakness is seen with defects in long-chain acyl-CoA dehydrogenase, medium-chain acyl-CoA dehydrogenase, or short-chain acyl-CoA dehydrogenase. The latter three are often associated with low muscle carnitine concentrations. In patients who present with only muscle weakness and triglyceride storage, muscle carnitine concentrations may be either normal or reduced.

UI	MeSH Term	Description	Entries
D008052	Lipid Metabolism, Inborn Errors	Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.	Lipid Metabolism, Inborn Error
D009132	Muscles	Contractile tissue that produces movement in animals.	Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009135	Muscular Diseases	Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D005227	Fatty Acids	Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)	Aliphatic Acid,Esterified Fatty Acid,Fatty Acid,Fatty Acids, Esterified,Fatty Acids, Saturated,Saturated Fatty Acid,Aliphatic Acids,Acid, Aliphatic,Acid, Esterified Fatty,Acid, Saturated Fatty,Esterified Fatty Acids,Fatty Acid, Esterified,Fatty Acid, Saturated,Saturated Fatty Acids
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man