A case of partial carnitine palmitoyltransferase deficiency in a patient undergoing chronic hemodialysis

A 71-year-old male undergoing hemodialysis for ch ron ic renal failure pres ented with proximal muscle weakness. He had normal levels of serum creatine phosphokinase. The results of nerve conduction velocity studies and a need le-exploration electromyogram were normal. Ultrasonography revealed adenoma tous enlargement of the parathyroid glands, and he had marked elevation of the serum parathormone level. The level of serum free carnitine before hemo dialysis was significantly lower than normal, while the acyl/free ratio was high. However, the muscle carnitine content was within the normal range. I nterestingly, partial inactivation of carnitine palmitoyltransferase activi ty in the muscle was observed in association with the elevation of the seru m parathormone level. Uremic myopathy in this case may be caused not only b y abnormal carnitine metabolism but could also be attributable to the parti al carnitine palmitoyltransferase deficiency associated with secondary hype rparathyroidism. Copyright (C) 2001 S. Karger AG. Basel.