Biomaterial Database

Muscle carnitine palmityltransferase deficiency and myoglobinuria. 1973

S DiMauro, and P M DiMauro

Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria. Long-chain fatty acyl CoA synthetase activity was normal; acetylcarnitine transferase activity was decreased by 40 percent, and carnitine content was 1.7 times higher than the mean control value. Utilization of palmitate by isolated mitochondria was more impaired than utilization of palmitylcarnitine, suggesting a more severe defect of carnitine palmityltransferase I than transferase II. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle.

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
D008297	Male		Males
D008931	Mitochondria, Muscle	Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.	Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
D009132	Muscles	Contractile tissue that produces movement in animals.	Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009212	Myoglobinuria	The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis.	Myoglobinurias
D010169	Palmitic Acids	A group of 16-carbon fatty acids that contain no double bonds.	Acids, Palmitic
D002250	Carbon Radioisotopes	Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.	Radioisotopes, Carbon
D002331	Carnitine	A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.	Bicarnesine,L-Carnitine,Levocarnitine,Vitamin BT,L Carnitine
D003066	Coenzyme A Ligases	Enzymes that catalyze the formation of acyl-CoA derivatives. EC 6.2.1.	Acyl CoA Synthetase,Acyl CoA Synthetases,Acyl Coenzyme A Synthetase,Acyl Coenzyme A Synthetases,Coenzyme A Ligase,Coenzyme A Synthetase,Coenzyme A Synthetases,Acid-Thiol Ligases,Co A Ligases,A Ligase, Coenzyme,A Synthetase, Coenzyme,Acid Thiol Ligases,CoA Synthetase, Acyl,CoA Synthetases, Acyl,Ligase, Coenzyme A,Ligases, Acid-Thiol,Ligases, Co A,Ligases, Coenzyme A,Synthetase, Acyl CoA,Synthetase, Coenzyme A,Synthetases, Acyl CoA,Synthetases, Coenzyme A
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man