Definition
- Abnormalities in the utilization of skeletal muscle glucose and/or fatty acids (lipids) cause a variety of syndromes resulting in muscle dysfunction.
- Wide range of clinical presentations
- Acute, with pain, rhabdomyolysis, and myoglobinuria
- Chronic, with progressive weakness
- Disorders of glucose utilization
- Disorders of glycogen storage causing progressive weakness
- Acid maltase deficiency (Pompe disease; type II glycogenosis)
- Debranching enzyme deficiency (type III glycogenosis)
- Branching enzyme deficiency (type IV glycogenosis)
- Disorders of glycolysis causing exercise intolerance
- Myophosphorylase deficiency (McArdle disease; type V glycogenosis)
- Phosphofructokinase deficiency (type VII glycogenosis)
- Phosphoglycerate kinase deficiency (type IX glycogenosis)
- Phosphoglycerate mutase deficiency (type X glycogenosis)
- Lactate dehydrogenase deficiency (type XI glycogenosis)
- Disorders of lipid utilization causing exercise-induced myoglobinuria and muscle pain
- Carnitine palmitoyltransferase II deficiency
- Myoadenylate deaminase deficiency
Disorders of Muscle Energy Metabolism has been found in Harrison's Practice
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