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

Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well as storage diseases. A number of metabolic disorders are associated with both myopathy and cardiomyopathy. These include the glycogen storage diseases, ie, acid maltase deficiency (infantile, childhood, and adult onset), McArdle disease, and debrancher and brancher deficiencies. Disorders of lipid metabolism include systemic carnitine deficiency and abnormalities of carnitine palmitoyltransferase (CPT), long-chain acyl-CoA dehydrogenase, and multiple acyl-CoA dehydrogenase. Disorders of mitochondrial metabolism affect complex I, II, III, IV and V, in addition to multiple respiratory chain defects. These may cause either hypertrophic or dilated cardiomyopathy. In addition, cardiomyopathy is frequently a component part of the storage disorders, including mucopolysaccharidosis, mucolipidosis, Fabry disease, gangliosidosis, and neuronal ceroid lipofuscinosis. Primary hypertrophic cardiomyopathy is caused by mutations in one of the genes that encode proteins of the cardiac sarcomere. Mutations in different genes are attended by different prognoses and different risks of sudden death. Mutations of the genes for myosin binding protein C (MBPC) and tropomyosin have low penetrance and cause mild forms of primary hypertrophic cardiomyopathy, while mutations of the troponin T and B-myosin genes carry a worse prognosis. Conduction disorders result in cardiac arrhythmias that may be fatal. Histiocytoid cardiomyopathy is usually an autosomal recessive disorder that results in the presence of abnormal Purkinje cells that interfere with normal cardiac conduction. Other conduction defects include arrhythmogenic right ventricular dysplasia (ARVD), congenital heart block, noncompaction of the left ventricle, and long Q-T syndrome (LQTS). The genetic loci for LQTS reside usually in the potassium channel, and, less frequently, in the sodium channel (channelopathies). Although the histological appearance of some of these disorders may be diagnostic, molecular analysis is necessary to define clearly the particular type of cardiomyopathy.
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PMID:Review: Metabolic cardiomyopathy and conduction system defects in children. 1503 65

The aim of this study is to evaluate Protein Z (PTZ) and protein C (PTC) levels in newborns suffering from RDS, healthy preterm and full term newborns and to compare PTZ serum levels in RDS preterm infants with healthy preterm before and after recovery. Sixty newborn infants, recruited from the neonatal unit, were enrolled in the study and divided into 3 groups: Group (I): 20 preterm with RDS, Group (II): 20 healthy preterm control newborns (CPT) and Group (III): 20 healthy full term control newborns (CFT). Protein Z and C were measured using ELISA kits. The results of the study showed lower levels of protein Z were obtained in RDS group compared to preterm controls whose levels were significantly lower than in full-term controls. A significant increase in PTZ levels in RDS' group after recovery, when compared to preterm controls. In RDS, no significant correlations existed between PTZ levels (before and after recovery) and routine investigations except for a significant negative correlation with platelets count. No significant differences were found in PTC levels between the 3 studied groups. To conclude: premature newborns suffering from RDS showed decreased serum protein Z levels than normal preterm control newborns with further increase in its pattern after recovery. Further studies are recommended to evaluate the role of PTZ on outcome in premature newborns with RDS and to evaluate the relationship between protein PTZ and PTC and other coagulation factors incriminated in the development of RDS.
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PMID:Role of protein Z and protein C in neonates with respiratory distress syndrome in Egypt (experience of one centre). 2018 Mar 21

Warfarin is the anticoagulant of choice for venous thromboembolism (VTE) treatment, although its suppression of the endogenous clot-dissolution complex APC:PS may ultimately lead to longer time-to-clot dissolution profiles, resulting in increased risk of re-thrombosis. This detrimental effect might not occur during VTE treatment using other anticoagulants, such as rivaroxaban or enoxaparin, given their different mechanisms of action within the coagulation network. A quantitative systems pharmacology model was developed describing the coagulation network to monitor clotting factor levels under warfarin, enoxaparin, and rivaroxaban treatment. The model allowed for estimation of all factor rate constants and production rates. Predictions of individual coagulation factor time courses under steady-state warfarin, enoxaparin, and rivaroxaban treatment reflected the suppression of protein C and protein S under warfarin compared to rivaroxaban and enoxaparin. The model may be used as a tool during clinical practice to predict effects of anticoagulants on individual clotting factor time courses and optimize antithrombotic therapy.
CPT Pharmacometrics Syst Pharmacol 2016 10
PMID:Quantitative Systems Pharmacology Model to Predict the Effects of Commonly Used Anticoagulants on the Human Coagulation Network. 2764 67