Metabolic Myopathies
Metabolic myopathies are rare, genetic disorders that cause muscle problems.
“Metabolic” refers to chemical reactions that provide necessary energy and nutrients for healthy muscle growth.
Metabolic myopathies are inherited and tend to run in families.
They can occur at any age. Genetic defects interfere with the processes in muscle that generate energy. Muscle cells cannot work properly.
To work properly, muscles need a chemical called adenosine triphosphate (ATP). Cells make ATP from sugars and fats on certain pathways in chemical reactions driven by enzymes.
Lack of certain enzymes causes metabolic myopathies, which are named according to the pathways affected.
Some myopathies can cause rhabdomyolysis (a process when muscle tissue gets damaged and substances from inside the muscle cells enter the bloodstream).