Lipid storage myopathy


Metabolic myopathies refer to a group of hereditary muscle disorders caused by enzymatic defects due to defective gene insult. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary inborn errors of metabolism and are associated with known or postulated enzymatic defects that affect the ability of muscle fibers to maintain adequate adenosine triphosphate (ATP) concentrations. Traditionally, these diseases are grouped into abnormalities of glycogen, lipid, purine, or mitochondrial biochemistry.


Muscle weakness Muscle cramps Exercise intolerance


Muscle overuse Infections * Fluid loss Dehydration Electrolyte imbalance