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Metabolic Myopathies and Related Diseases

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Myopathology

Abstract

The term “metabolism” has its origin from the Greek word metaballen which means “change.” It is the process of transformation (change) of chemical compounds (metabolites) in the body by virtue of tightly regulated chemical reactions (pathways) to sustain life. Metabolic myopathies (MM) refer to a set of muscle disorders caused by impairment in the metabolism of substrates to energy producing adenosine triphosphate (ATP) via oxidative phosphorylation (Fig. 12.1) [1]. They can be broadly categorized into glycogen storage diseases (GSD), fatty acid oxidation defects (FAOD), and mitochondrial disorders. Mitochondrial myopathies by themselves form a diverse group and hence are discussed separately (Chap. 10). The gamut of metabolic myopathies is broad ranging from infantile to adult-onset isolated myopathies or multisystem involvement. Hence, the diagnosis is often challenging. However, distinct clinicopathological features help in the recognition of these rare diseases. In this chapter, we will be discussing the normal metabolic pathways and the defects involving the carbohydrate and lipid metabolism, clinical features, laboratory investigations, and myopathological features.

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Authors and Affiliations

  1. Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Balan Louis Gaspar & Rakesh Kumar Vasishta

  2. Division of Neuropathology, Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Bishan Dass Radotra

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  1. Balan Louis Gaspar
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Gaspar, B.L., Vasishta, R.K., Radotra, B.D. (2019). Metabolic Myopathies and Related Diseases. In: Myopathology. Springer, Singapore. https://doi.org/10.1007/978-981-13-1462-9_12

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