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 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...
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 کاملMyopathies related to diabetes mellitus and other metabolic diseases.
Although it has long been known that both large and small blood vessels are abnormal in the tissues of diabetic patients, recent work has emphasized the widening of capillary basement membranes in diabetic tissues. Current views of the nature of this lesion and its relationship to diabetes are discussed and diabetic muscle and nerve lesions are emphasized. Other metabolic diseases with signifi...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1996
ISSN: 0022-3050
DOI: 10.1136/jnnp.61.1.125