Diagnosis Methods of Metabolic Myopathies: Hystological Evaluation of Muscle Tissues

cocukmetabolizma-5-1-2024

Beyza BELDE DOĞANa

aGazi University Faculty of Medicine, Department of Histology and Embryology, Ankara, Türkiye

ABSTRACT
Metabolic myopathies are a group of muscle disorders resulting from failed energy production related to defects in glycogen, lipid, or mitochondrial metabolism and include disorders of glycogen synthesis and degradation, lipid handling, carnitine transport system and deficiencies of the mitochondrial dehydrogenase enzyme system. These disorders may manifest as a systemic disease or as a muscle-specific phenotype, and their diagnosis is complex and difficult. There are some important points to be known about taking muscle biopsy (choosing the correct area for biopsy, use of anesthetic? etc), which is so important for diagnosis, and if samples are not taken and evaluated in accordance with these rules, it will be difficult to reach a correct diagnosis. The clinicians can identify potential patients with metabolic myopathies with well-described phenotypes, basic knowledge of the organ system disease spectrum and pathophysiology. Although clinicians find muscle histology important as a diagnostic tool, and it certainly can help diagnose some nonmetabolic disorders, genetic testing can often give a definitive answer.
Keywords: Mitochondrial myopathies; metabolic diseases; histology

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