Carbohydrate oxidation disorders of skeletal muscle.

Abstract excerpt

PURPOSE OF REVIEW: The major energy sources for muscle contraction are glycogen, glucose and fatty acids, and defects in their oxidative pathways cause metabolic myopathies. Eleven specific enzyme deficiencies of carbohydrate oxidation affect skeletal muscle alone or in combination with other tissues, such as liver, heart or red blood cells. These hereditary glycogen storage diseases cause two major clinical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Disease Models, Animal
• Share to Genetic Therapy
• Share to Genotype