Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.3.1.21 (CPT)
 4,580 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Severe myalgias, accompanied by reddish brown discolouration of the urine, occurred after strenuous exercise (all-day hockey competition) in a 21-year-old competitive athlete. Creatine kinase concentration was 1914 U/l, but there were no abnormal physical findings. The myalgias disappeared within three days. A biopsy from the lateral vastus muscle in the patient and his monozygotic twin brother showed normal total activity of carnitine palmitoyltransferase (CPT), but residual activity after inhibition with malonyl-CoA and Triton X-100 was clearly reduced in both brothers. Thus the illness was a rhabdomyolysis due to a, presumably inherited, abnormal regulation of CPT. The symptoms can be precipitated by fasting, marked physical exertion, cold or viral infection.
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PMID:[Abnormal regulation of carnitine palmitoyltransferase in monozygotic twins as the cause of rhabdomyolysis]. 230 2

Literature has shown that children have lower anaerobic capacity and oxidize more lipids during aerobic activity compared with adults. The purpose of the present study was to examine the effects of age on the activity of marker enzymes for anaerobic and aerobic metabolism in human skeletal muscle from relatively sedentary children and adults. The m. obliquus internus abdominis was analyzed for anaerobic [creatine kinase, adenylate kinase, and lactate dehydrogenase (LDH)] and aerobic (carnitine palmitoyltransferase and 2-oxoglutarate dehydrogenase) enzyme activities in 32 male individuals. The subjects were divided into two groups: children (3-11 y; n=20) and adults (29-54 y; n=12). LDH activity was higher in adults (118.2 +/- 20.1) compared with children (27.8 +/- 10.1) micromol.min(-1).g(-1) wet weight (p <0.0002). Creatine kinase activity was 28% (p <0.0003) lower in children than in adults, and adenylate kinase activity was 20% (p <0.006) lower in children than in adults. In addition, we found higher 2-oxoglutarate dehydrogenase activity in adults compared with children (p <0.04), with no effect of age on carnitine palmitoyltransferase activity (NS). When samples were expressed relative to protein content, only LDH activity remained significantly lower in children compared with adults (p <0.0001). In conclusion, the lower LDH activity observed in children compared with adults may partially explain decreased anaerobic and lactate generation capacity of the children studied. However, the mechanisms for the relatively deficient anaerobic enzyme activities of children are not clear.
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PMID:Anaerobic and aerobic enzyme activities in human skeletal muscle from children and adults. 1561 48