Types of Metabolic Diseases of Muscle Metabolic Diseases of Muscle

Types of Metabolic Diseases of Muscle

This section provides information about 10 metabolic diseases of muscle. Each one gets its name from the substance that’s lacking.

For more information about these types, please click on the individual disease name.

Muscle cells in metabolic diseases

Where the Problems Lie in Each Disease
= genetic defect Acid maltase deficiency Muscle phosphorylase deficiency Debrancher enzyme deficiency Phosphofructokinase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Carnitine palymityl transferase deficiency Carnitine deficiency Myoadenylate deaminase deficiency	Skeletal muscles normally depend on energy from carbohydrates and fats. These fuels can be stored in the muscle (glycogen) or imported directly from the bloodstream (glucose and fatty acids). When a genetic defect interferes with the processing of specific fuels, energy shortages can occur and toxic byproducts may build up. Some people may be able to bypass their defects by adjusting diet or exercise to draw energy more efficiently from unaffected pathways.

Where the Problems Lie in Each Disease

= genetic defect

Acid maltase deficiency
Muscle phosphorylase deficiency
Debrancher enzyme deficiency
Phosphofructokinase deficiency
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Lactate dehydrogenase deficiency
Carnitine palymityl transferase deficiency
Carnitine deficiency
Myoadenylate deaminase deficiency

Skeletal muscles normally depend on energy from carbohydrates and fats. These fuels can be stored in the muscle (glycogen) or imported directly from the bloodstream (glucose and fatty acids).

When a genetic defect interferes with the processing of specific fuels, energy shortages can occur and toxic byproducts may build up.

Some people may be able to bypass their defects by adjusting diet or exercise to draw energy more efficiently from unaffected pathways.

Disease:

Metabolic Diseases of Muscle

Acid Maltase Deficiency (AMD)

Carnitine Deficiency

Carnitine Palmityl Transferase Deficiency (CPT Deficiency)

Debrancher Enzyme Deficiency

Cori Disease (Debrancher Enzyme Deficiency)

Lactate Dehydrogenase Deficiency

Myoadenylate Deaminase Deficiency

Phosphofructokinase Deficiency