VII. Supplementation therapy for metabolic myopathies
نویسندگان
چکیده
منابع مشابه
Metabolic myopathies.
PURPOSE OF REVIEW The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies. RECENT FINDINGS Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with...
متن کاملmetabolic myopathies
metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...
متن کاملA diagnostic algorithm for metabolic myopathies.
Metabolic myopathies comprise a clinically and etiologically diverse group of disorders caused by defects in cellular energy metabolism, including the breakdown of carbohydrates and fatty acids to generate adenosine triphosphate, predominantly through mitochondrial oxidative phosphorylation. Accordingly, the three main categories of metabolic myopathies are glycogen storage diseases, fatty acid...
متن کاملAmino acid supplementation for reversing bed rest and steroid myopathies.
Muscular inactivity is inherent in many circumstances, including convalescence from serious illness or injury, spaceflight, and the progression of aging. Inactivity in a healthy individual leads to a decrease in whole-body protein turnover composed primarily of a decrease in muscle protein synthesis. The decrease in muscle protein synthesis leads to a substantial loss of lean body mass. We have...
متن کاملTwo eminently treatable genetic metabolic myopathies.
Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin supplementation. Recently, studies have also confirmed the effectiveness of recombinant enzyme replacement therapy for Acid Maltase Deficiency (Pompe...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 2018
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.107.1501