Targeted Therapies for Metabolic Myopathies Related to Glycogen …
Our systematic review has collated evidence for pharmacologic-based interventions in genetically confirmed metabolic myopathies related to glycogen storage and lipid metabolism and created a dataset linking the treatments with the causative genetic variant.
Metabolic profiles of exercise in patients with McArdle disease or ...
Here we applied plasma metabolic profiling to capture a holistic picture of metabolism at rest and with exercise in two metabolic myopathies that restrict oxidative metabolism: McArdle disease, characterized by defective glycogen fuel mobilization, and mitochondrial disease, characterized by a defective respiratory chain.
McArdle disease: a case report and review - PMC - PubMed …
McArdle disease is a pure myopathy caused by an inherited deficit of the skeletal muscle isoform of glycogen phosphorylase. This syndrome is characterized by exercise intolerance, with most patients experiencing acute “muscle crises” after static or intense dynamic exercise.
2024年9月24日 · McArdle's disease, also known as glycogen storage disease type V or McArdle syndrome, is a pure muscle myopathy with an autosomal recessive inheritance pattern. It is caused by mutations in the gene that encodes muscle phosphorylase. Symptoms typically begin in late adolescence or early adulthood, presenting as exercise intolerance.
Metabolic aspects of glycogenolysis with special attention to McArdle …
2024年8月1日 · Metabolic myopathies represent a group of genetic disorders characterised by the limited ability of skeletal muscles to generate energy. Here, we discuss the metabolic aspects of glycogenosis with a focus on McArdle disease, offering insights into its pathophysiology.
McArdle's Disease: A Differential Diagnosis of Metabolic
2024年9月23日 · McArdle's disease, also known as glycogen storage disease type V or McArdle syndrome, is a pure muscle myopathy with an autosomal recessive inheritance pattern. It is caused by mutations in the gene that encodes muscle phosphorylase. Symptoms typically begin in late adolescence or early adulthood, p …
Update Review about Metabolic Myopathies - MDPI
2020年4月17日 · Disorders of lipid metabolism with markedly increased lipid droplets in myocytes include primary carnitine deficiency (PCD), multi-acyl-CoA dehydrogenase deficiency (MADD), and neutral lipid storage disease with myopathy (NLSD-M) .
McArdle Disease and Exercise Physiology - MDPI
2014年2月25日 · McArdle disease (glycogen storage disease Type V; MD) is a metabolic myopathy caused by a deficiency in muscle glycogen phosphorylase. Since muscle glycogen is an important fuel for muscle during exercise, this inborn error of metabolism provides a model for understanding the role of glycogen in muscle function and the compensatory adaptations ...
McArdle Disease and Exercise Physiology - ResearchGate
2014年3月1日 · McArdle disease (glycogen storage disease Type V; MD) is a metabolic myopathy caused by a deficiency in muscle glycogen phosphorylase.
Therapeutic options in other metabolic myopathies - PubMed
Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations.