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Current Rheumatology Reports

Erschienen in:

01.10.2010

Metabolic Myopathies

verfasst von: Salvatore DiMauro, Caterina Garone, Ali Naini

Erschienen in: Current Rheumatology Reports | Ausgabe 5/2010

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Abstract

We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen (“aglycogenosis”). These include defects of glycogen synthetase and defects of glycogenin, the primer of glycogen synthesis. Considerable progress also has been made in our understanding of alterations of glycogen metabolism that result in polyglucosan storage. Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (Chanarin-Dorfman syndrome), the other dominated by juvenile-onset weakness. For the mitochondrial myopathies, we discuss the importance of homoplasmic mitochondrial DNA mutations and review the rapid progress made in our understanding of the coenzyme Q₁₀ deficiencies, which are often treatable.

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Titel: Metabolic Myopathies
verfasst von: Salvatore DiMauro
Caterina Garone
Ali Naini
Publikationsdatum: 01.10.2010
Verlag: Current Science Inc.
Erschienen in: Current Rheumatology Reports / Ausgabe 5/2010
Print ISSN: 1523-3774
Elektronische ISSN: 1534-6307
DOI: https://doi.org/10.1007/s11926-010-0119-9

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