Metabolic Myopathies—from Diagnosis to Therapy

Dear Colleagues,

The functioning of skeletal muscles constantly requires energy. The required energy is available mainly from the metabolism of glucose, glycogen, and fatty acids. Disorders of the metabolic pathways of these energy sources result in different forms of metabolic myopathies. Depending on the underlying metabolic defects, the clinical spectrum of metabolic myopathies is heterogeneous; ranging from mild transient stress intolerance to severe permanent paresis, as well as severe rhabdomyolysis resulting in kidney failure. Moreover, multi-system involvements are also reported in some forms of metabolic myopathies, especially in mitochondriopathies. The diagnosis of these disorders involves the histological and histochemical examination of the muscle biopsy. In most cases, the molecular genetic analysis confirms the genetic evidence of the enzyme defect by identifying the underlying mutation. Due to clinical, histological, biochemical, and genetic complications, the diagnosis of metabolic myopathies is not easy and, hence, a coordinated team of clinicians, geneticists, and morphologists is important.

The treatment options for metabolic myopathies are limited and include mainly invasive/non-invasive symptomatic measures. However, enzyme replacement therapy in Morbus Pompe (Glycogen Storage Disease type II; GSDII) has shown promising results and is being implemented in a large number of patients worldwide. Coenzyme Q supplementation has also yielded positive outcomes in Coenzyme Q deficiency. Measures to identify and establish therapeutic measures in other forms of metabolic myopathies are developing rapidly worldwide. We believe that a lot of these disorders will be treatable in the near future.

In this Special Issue entitled “Metabolic Myopathies—From Diagnosis to Therapy”, submission of original scientific reports, review articles, case reports, and perspective pieces on metabolic myopathies is invited. This issue will cover the diverse diagnostic and therapeutic aspects of metabolic myopathies including different forms of glycogen storage diseases (GSDs), fatty acid metabolism disorders, and mitochondriopathies.

There is no doubt that this Special Issue will be an incredible resource for scientists working within the field of metabolic myopathies as well as for life science researchers in general.

Dr. Pushpa Raj Joshi
Guest Editor

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• Metabolic myopathies
• glycogenosis
• fatty acid
• mitochondrial diseases
• muscle