Recurrent Myoglobinuria Due to Muscle Carnitine Palmityl Transferase Deficiency

Abstract

New cases [3] of carnitine palmityl transferase deficiency are described. The syndrome consists of recurrent attacks of muscle cramps, weakness, malaise and myoglobinuria. These attacks are especially likely to occur during prolonged exercise after fasting, a high-fat diet or during cold weather. Occasionally after fasting alone, spontaneous muscle breakdown may occur. One patient studied in detail was excessively slow in producing ketones when fasting. The myalgias and weakness appeared to be alleviated by .beta.-hydroxybutyrate. Of 8 other patients thought to have idiopathic recurrent myoglobinuria, 3 apparently had myophosphorylase deficiency, whereas 5 did not have deficiency of either enzyme. Carnitine palmityl transferase deficiency may be more common than previously supposed, may be in part amenable to dietary therapy, can be easily distinguished from myophosphorylase deficiency and may provide insight into the metabolism of fatty acids and ketone bodies and energy requirements of skeletal muscle.