Clinical disorders of muscle energy metabolism

Abstract

The disorders of muscle energy metabolism can be classified into degenerative (myopathic) and dynamic syndromes. Four dynamic syndromes are currently recognized: 1) defective carbohydrate utilization, due to block of glycogenolysis or glycolysis; 2) defective lipid utilization, due to deficiency of the mitochondrial translocation of long-chain fatty acids (carnitine palmityltransferase deficiency); 3) lactic acidosis, due to defects of mitochondrial electron transport enzymes and possibly other unidentified defects; and 4) abnormal adenine nucleotide metabolism, exemplified by adenylate deaminase deficiency. The way in which the response to exercise is affected by impaired muscle energy metabolism is dependent on the type of metabolic defect. Defective carbohydrate metabolism severely limits the ability for high-intensity and ischemic exercise. The ability to perform prolonged exercise is markedly impaired in dynamic disorders of lipid metabolism. Other disorders, including those of adenine nucleotide metabolism also may have important implications for our understanding of the metabolic phenomena involved in exercise and recovery.