A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.

@article{Bank1975ADO,
  title={A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.},
  author={World Bank and Salvatore Dimauro and Eduardo Bonilla and David M. Capuzzi and Lewis P. Rowland},
  journal={The New England journal of medicine},
  year={1975},
  volume={292 9},
  pages={443-9}
}
Two brothers, 29 and 33 years of age, had recurrent myoglobinuria, renal failure and azotemia, but were otherwise normal, without apparent muscle weakness or exercise intolerance. Ischemic exercise resulted in normal lactate production. Muscle glycogen content and activities of phosphorylase and phosphofructokinase were normal. Plasma triglycerides were elevated (500 mg per deciliter) on a regular diet and rose during fasting. During a 72-hour fast, serum creatine phosphokinase rose more than… CONTINUE READING

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