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      A Case of Partial Carnitine Palmitoyltransferase Deficiency in a Patient Undergoing Chronic Hemodialysis

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          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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          Fatty acid oxidation defects in muscle.

           A Morris,  D Turnbull (1998)
          Fatty acid oxidation defects can cause recurrent rhabdomyolysis or chronic progressive muscle weakness. Diagnosis is often possible on blood using tandem mass spectrometry or molecular genetic techniques. Riboflavin and carnitine are effective in some cases of multiple acyl-CoA dehydrogenase deficiency and primary carnitine deficiency, respectively. Controlled trials are needed to evaluate other proposed forms of treatment.

            Author and article information

            Am J Nephrol
            American Journal of Nephrology
            S. Karger AG
            February 2001
            12 March 2001
            : 21
            : 1
            : 63-65
            First Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan
            46222 Am J Nephrol 2001;21:63–65
            © 2001 S. Karger AG, Basel

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