Lipid-Storage Myopathy

Lipid-storage myopathy is a group of fatty-acid-oxidation defects causing abnormal lipid droplet accumulation in skeletal muscle (e.g., carnitine deficiency, carnitine-palmitoyltransferase deficiency, very-long-chain acyl-CoA dehydrogenase deficiency). Clinical: exercise intolerance, myalgia, muscle cramps, recurrent rhabdomyolysis/myoglobinuria, and (in systemic carnitine deficiency) cardiomyopathy. Treatment: high-carbohydrate/low-fat diet, avoid fasting, carnitine supplementation, and riboflavin in selected defects.

Common Symptoms

Exercise intolerance; myalgia; muscle cramps; rhabdomyolysis/myoglobinuria; cardiomyopathy (systemic carnitine deficiency)

Causes and Pathogenesis

Defective fatty-acid transport/oxidation causes lipid accumulation in muscle fibers and impaired energy supply during fasting/endurance exercise.

Treatment

High-carb/low-fat diet; avoid fasting/strenuous exercise; carnitine supplementation; riboflavin; treat rhabdomyolysis

Preventive Measures

Avoid prolonged fasting; careful exercise; genetic counseling; family screening.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.