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)

A 14-year-old girl, having mental and growth retardation with end stage renal disease, was affected by a stroke-like attack. The attack was associated with transient low density areas at both sides of the parietal portion on head CT. Lactic acidosis, hypertrophic cardiomyopathy, angina pectoris-like attacks, hypertension and hyperparathyroidism were also observed and they were supposedly due to mitochondrial cytopathy. No morphological or biochemical abnormalities were found on the mitochondrial respiratory chain. However, muscle carnitine palmitoyltransferase (CPT) activity was significantly low, which was restored to a normal level after hyperparathyroidism was controlled by alphacalcidol administration. Furthermore, we also found two more chronic renal failure patients with secondary hyperparathyroidism, as well as the primary hyperparathyroidism patient showing markedly low muscle CPT activity. These findings suggest the possible contribution of parathyroid hormone to lipid metabolism in skeletal muscle and to the myopathic manifestations often seen in hyperparathyroidism.
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PMID:Secondary carnitine palmitoyltransferase deficiency in chronic renal failure and secondary hyperparathyroidism. 872 13

A 71-year-old male undergoing hemodialysis for chronic renal failure presented with proximal muscle weakness. He had normal levels of serum creatine phosphokinase. The results of nerve conduction velocity studies and a needle-exploration electromyogram were normal. Ultrasonography revealed adenomatous enlargement of the parathyroid glands, and he had marked elevation of the serum parathormone level. The level of serum free carnitine before hemodialysis was significantly lower than normal, while the acyl/free ratio was high. However, the muscle carnitine content was within the normal range. Interestingly, partial inactivation of carnitine palmitoyltransferase activity in the muscle was observed in association with the elevation of the serum parathormone level. Uremic myopathy in this case may be caused not only by abnormal carnitine metabolism but could also be attributable to the partial carnitine palmitoyltransferase deficiency associated with secondary hyperparathyroidism.
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PMID:A case of partial carnitine palmitoyltransferase deficiency in a patient undergoing chronic hemodialysis. 1127 36

A 68-year-old woman was on dialysis for the treatment of chronic renal failure. FOLFOX 4 therapy was performed following CPT-11+UFT+Leucovorin for liver metastasis after resection of cancer of the sigmoid colon. The dose of oxaliplatin was 40 mg/m2, while 5-FU was given as a bolus of 300 mg/m2, and a continuous intravenous infusion of 500 mg/m2. Hemodialysis was performed 1 hour after administration of oxaliplatin on day 1 and was repeated two days later after the completion of drug administration. Vomiting (grade 2),anorexia and leukopenia (both grade 3) were observed after the first treatment. A total of 4 courses were administered thereafter by reducing the dose of oxaliplatin to 32 mg/m2, the intravenous bolus of 5-FU to 240 mg/m2, and continuous infusion of 5-FU to 400 mg/m2. Measurement of drug concentrations showed that free platinum was immediately eliminated by dialysis. It was considered possible to safely perform FOLFOX 4 therapy in patients with chronic renal failure by reducing the doses and by providing dialysis. It is desirable to measure drug concentrations in these patients. Also,more cases should be monitored to investigate the safe dose,the blood drug concentration profile, and the accumulation of chemotherapy agents.
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PMID:[FOLFOX 4 in a patient with metastatic colorectal cancer on hemodialysis due to chronic renal failure]. 1768 18