Hereditary Metabolic Myopathies
There are nine known hereditary enzyme defects of glycogen metabolism and glycolysis affecting skeletal muscle. “Metabolic myopathie” can be classified into two main groups: 1. Deficiencies of enzymes that occur in single molecular forms which are already present in fetal tissues and continue to be synthesized throughout life. Defects of these “household enzymes” usually cause functional impairment of muscle, as well as other organs and tissues. 2. Deficiencies of enzymes that occur in multi-molecular forms in different tissues (isozymes) which normally undergo transitions during myogenesis and muscle maturation. This developmentally-regulated process involves a gradual shift from one or more isozymes present in fetal muscle, to a muscle-specific form, which persists throughout post-natal life.
KeywordsCreatine Kinase Glycogen Accumulation Phosphoglycerate Mutase Mature Muscle Muscle Culture
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